diff --git a/.github/workflows/documentation.yml b/.github/workflows/documentation.yml
index 721dd3f1..d98c2c57 100644
--- a/.github/workflows/documentation.yml
+++ b/.github/workflows/documentation.yml
@@ -1,10 +1,17 @@
-name: mkdocs-generation
+name: Deploy documentation
+
 on:
   push:
     branches:
       - main
+
 permissions:
   contents: write
+
+env:
+  # Path to directory that contains the cohorts, one cohort per folder.
+  NOTEBOOK_DIR: notebooks
+
 jobs:
   deploy:
     runs-on: ubuntu-latest
@@ -17,9 +24,16 @@ jobs:
         with:
           key: ${{ github.ref }}
           path: .cache
-      - run: pip install mkdocs-material
-      - run: pip install mkdocs-material[imaging]
-      - run: pip install pillow cairosvg
-      - run: pip install mkdocs-material-extensions
-      - run: pip install mkdocstrings[python]
-      - run: mkdocs gh-deploy --force
\ No newline at end of file
+
+      - name: Install docs dependencies
+        run: |
+          python3 -m pip install .[docs]
+
+      - name: Generate reports
+        run: |
+          python3 -m ppktstore report collections --notebook-dir ${NOTEBOOK_DIR} --output docs/collections.md
+
+      - name: Deploy docs
+        run: |
+          mkdocs gh-deploy --force
+  
\ No newline at end of file
diff --git a/GetPhenopackets.ipynb b/GetPhenopackets.ipynb
index aa5379dd..401c912b 100644
--- a/GetPhenopackets.ipynb
+++ b/GetPhenopackets.ipynb
@@ -735,7 +735,10 @@
     "import os\n",
     "from ppktstore.stats import generate_phenopacket_store_report\n",
     "\n",
-    "report = generate_phenopacket_store_report(notebook_dir)\n",
+    "report = generate_phenopacket_store_report(\n",
+    "    notebook_dir=\"notebooks\", \n",
+    "    notebook_dir_url='https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks'\n",
+    ")\n",
     "\n",
     "outfile = os.path.join('docs', 'collections.md')\n",
     "with open(outfile, 'w') as fh:\n",
diff --git a/docs/collections.md b/docs/collections.md
index 57dd0223..3a438191 100644
--- a/docs/collections.md
+++ b/docs/collections.md
@@ -9,411 +9,411 @@ Phenopacket store is a repository of [GA4GH phenopackets](https://pubmed.ncbi.nl
 
 |Cohort|Comments|
 | :--- | :--- |
-|[11q_terminal_deletion](notebooks/11q_terminal_deletion/grossfield_11q_2004.ipynb){:target="_blank"}|69 Phenopackets;[Jacobsen syndrome](https://omim.org/entry/147791){:target="_blank"}|
-|[AAGAB](notebooks/AAGAB/AAGAB_PPKP1A_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Keratoderma, palmoplantar, punctate type IA](https://omim.org/entry/148600){:target="_blank"}|
-|[ABCA4](notebooks/ABCA4/ABCA4_RP19_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Retinitis pigmentosa 19](https://omim.org/entry/601718){:target="_blank"}|
-|[ABCB7](notebooks/ABCB7/ABCB7_individuals.ipynb){:target="_blank"}|18 Phenopackets;[Anemia, sideroblastic, and spinocerebellar ataxia](https://omim.org/entry/301310){:target="_blank"}|
-|[ACBD6](notebooks/ACBD6/ACBD6_NEDPM_individuals.ipynb){:target="_blank"}|45 Phenopackets;[Neurodevelopmental disorder with progressive movement abnormalities](https://omim.org/entry/620785){:target="_blank"}|
-|[ACP4](notebooks/ACP4/ACP4_AI1J_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Amelogenesis imperfecta, type IJ](https://omim.org/entry/617297){:target="_blank"}|
-|[ACTA1](notebooks/ACTA1/ACTA1_CMYP2A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Congenital myopathy 2A, typical, autosomal dominant](https://omim.org/entry/161800){:target="_blank"}|
-|[ACTB](notebooks/ACTB/ACTB_AST_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Thrombocytopenia 8, with dysmorphic features and developmental delay](https://omim.org/entry/620475){:target="_blank"}|
-|[ACTN1](notebooks/ACTN1/ACTN1_BDPLT15_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Bleeding disorder, platelet-type, 15](https://omim.org/entry/615193){:target="_blank"}|
-|[ACVR1](notebooks/ACVR1/ACVR1_FOP_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Fibrodysplasia ossificans progressiva](https://omim.org/entry/135100){:target="_blank"}|
-|[ADA](notebooks/ADA/ADA_SCID_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Severe combined immunodeficiency due to ADA deficiency](https://omim.org/entry/102700){:target="_blank"}|
-|[ADA2](notebooks/ADA2/ADA2_VAIHS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome](https://omim.org/entry/615688){:target="_blank"}|
-|[ADAMTS10](notebooks/ADAMTS10/ADAMTS10_WMS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Weill-Marchesani syndrome 1, recessive](https://omim.org/entry/277600){:target="_blank"}|
-|[ADAMTS15](notebooks/ADAMTS15/ADAMTS15_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Arthrogryposis, distal, type 12](https://omim.org/entry/620545){:target="_blank"}|
-|[ADAMTSL2](notebooks/ADAMTSL2/ADAMTSL2_GPHYSD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Geleophysic dysplasia 1](https://omim.org/entry/231050){:target="_blank"}|
-|[ADGRG1](notebooks/ADGRG1/ADGRG1_CDCBM14A_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)](https://omim.org/entry/606854){:target="_blank"}|
-|[ADRA2A](notebooks/ADRA2A/ADRA2A_FPLD8_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Lipodystrophy, familial partial, type 8](https://omim.org/entry/620679){:target="_blank"}|
-|[AEBP1](notebooks/AEBP1/AEBP1_EDSCLL2_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Ehlers-Danlos syndrome, classic-like, 2](https://omim.org/entry/618000){:target="_blank"}|
-|[AGRN](notebooks/AGRN/AGRN_CMS8_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects](https://omim.org/entry/615120){:target="_blank"}|
-|[AIRE](notebooks/AIRE/AIRE_APS1_individuals.ipynb){:target="_blank"}|17 Phenopackets;[Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia](https://omim.org/entry/240300){:target="_blank"}|
-|[ALG9](notebooks/ALG9/ALG9_CDG1L_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Congenital disorder of glycosylation, type Il](https://omim.org/entry/608776){:target="_blank"}|
-|[AMN](notebooks/AMN/AMN_IGS2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Imerslund-Grasbeck syndrome 2](https://omim.org/entry/618882){:target="_blank"}|
-|[ANKH](notebooks/ANKH/ANKH_Summary.ipynb){:target="_blank"}|7 Phenopackets;[Craniometaphyseal dysplasia](https://omim.org/entry/123000){:target="_blank"}[Chondrocalcinosis 2](https://omim.org/entry/118600){:target="_blank"}|
-|[ANKRD11](notebooks/ANKRD11/ANKRD11_KBGS_individuals.ipynb){:target="_blank"}|337 Phenopackets;[KBG syndrome](https://omim.org/entry/148050){:target="_blank"}|
-|[ANTXR1](notebooks/ANTXR1/ANTXR1_GAPOS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[GAPO syndrome](https://omim.org/entry/230740){:target="_blank"}|
-|[ANTXR2](notebooks/ANTXR2/ANTXR2_HFS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyaline fibromatosis syndrome](https://omim.org/entry/228600){:target="_blank"}|
-|[APOLD1](notebooks/APOLD1/APOLD1_BDVAS_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bleeding disorder, vascular-type](https://omim.org/entry/620715){:target="_blank"}|
-|[APTX](notebooks/APTX/APTX_EAOH_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia](https://omim.org/entry/208920){:target="_blank"}|
-|[ARHGEF18](notebooks/ARHGEF18/ARHGEF18_RP78_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Retinitis pigmentosa 78](https://omim.org/entry/617433){:target="_blank"}|
-|[ARMC12](notebooks/ARMC12/ARMC12_SPG90_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Spermatogenic failure 90](https://omim.org/entry/620744){:target="_blank"}|
-|[ARMC9](notebooks/ARMC9/ARMC9_JBTS30_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Joubert syndrome 30](https://omim.org/entry/617622){:target="_blank"}|
-|[ARPC5](notebooks/ARPC5/ARPC5_IMD113_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Immunodeficiency 133 with autoimmunity and autoinflammation](https://omim.org/entry/620565){:target="_blank"}|
-|[ASAH1](notebooks/ASAH1/ASAH1_SMAPME_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Spinal muscular atrophy with progressive myoclonic epilepsy](https://omim.org/entry/159950){:target="_blank"}|
-|[ASCC3](notebooks/ASCC3/ASCC3_MRT81_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Intellectual developmental disorder, autosomal recessive 81](https://omim.org/entry/620700){:target="_blank"}|
-|[ASPM](notebooks/ASPM/ASPM_MCPH5_individuals.ipynb){:target="_blank"}|22 Phenopackets;[Microcephaly 5, primary, autosomal recessive](https://omim.org/entry/608716){:target="_blank"}|
-|[ASS1](notebooks/ASS1/ASS1_citrullinemia_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Citrullinemia](https://omim.org/entry/215700){:target="_blank"}|
-|[ATP13A2](notebooks/ATP13A2/ATP13A2_Summary.ipynb){:target="_blank"}|44 Phenopackets;[Kufor-Rakeb syndrome](https://omim.org/entry/606693){:target="_blank"}[Spastic paraplegia 78, autosomal recessive](https://omim.org/entry/617225){:target="_blank"}|
-|[ATP6V0C](notebooks/ATP6V0C/ATP6V0C_Mattison_2023.ipynb){:target="_blank"}|24 Phenopackets;[Epilepsy, early-onset, 3, with or without developmental delay](https://omim.org/entry/620465){:target="_blank"}|
-|[ATP6V1A](notebooks/ATP6V1A/ATP6V1A_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Cutis laxa, autosomal recessive, type IID](https://omim.org/entry/617403){:target="_blank"}|
-|[ATP6V1E1](notebooks/ATP6V1E1/ATP6V1E1_ARCL2C_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Cutis laxa, autosomal recessive, type IIC](https://omim.org/entry/617402){:target="_blank"}|
-|[ATRX](notebooks/ATRX/ATRX_ATRX_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Alpha-thalassemia/impaired intellectual development syndrome](https://omim.org/entry/301040){:target="_blank"}|
-|[AXIN1](notebooks/AXIN1/AXIN1_Craniometadiaphyseal_osteosclerosis_with_hip_dysplasia.ipynb){:target="_blank"}|7 Phenopackets;[Craniometadiaphyseal osteosclerosis with hip dysplasia](https://omim.org/entry/620558){:target="_blank"}|
-|[B3GALT6](notebooks/B3GALT6){:target="_blank"}|11 Phenopackets;[Ehlers-Danlos syndrome, spondylodysplastic type, 2](https://omim.org/entry/615349){:target="_blank"}[Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures](https://omim.org/entry/271640){:target="_blank"}|
-|[BBS1](notebooks/BBS1/BBS1_individuals.ipynb){:target="_blank"}|13 Phenopackets;[Bardet-Biedl syndrome 1](https://omim.org/entry/209900){:target="_blank"}|
-|[BBS2](notebooks/BBS2/BBS2_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bardet-Biedl syndrome 2](https://omim.org/entry/615981){:target="_blank"}|
-|[BBS4](notebooks/BBS4/BBS4_BBS4_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bardet-Biedl syndrome 4](https://omim.org/entry/615982){:target="_blank"}|
-|[BBS5](notebooks/BBS5/BBS5_BBS5_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bardet-Biedl syndrome 5](https://omim.org/entry/615983){:target="_blank"}|
-|[BCKDHB](notebooks/BCKDHB/BCKDHB_MSUD1B_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Maple syrup urine disease, type Ib](https://omim.org/entry/620698){:target="_blank"}|
-|[BCKDK](notebooks/BCKDK/BCKDK_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Branched-chain keto acid dehydrogenase kinase deficiency](https://omim.org/entry/614923){:target="_blank"}|
-|[BRAF](notebooks/BRAF/BRAF_CFC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cardiofaciocutaneous syndrome](https://omim.org/entry/115150){:target="_blank"}|
-|[BRD4](notebooks/BRD4/BRD4_individuals.ipynb){:target="_blank"}|18 Phenopackets;[Cornelia de Lange syndrome 6](https://omim.org/entry/620568){:target="_blank"}|
-|[BRPF1](notebooks/BRPF1/BRPF1_IDDDFP_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Intellectual developmental disorder with dysmorphic facies and ptosis](https://omim.org/entry/617333){:target="_blank"}|
-|[CAD](notebooks/CAD/CAD_DEE50_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Developmental and epileptic encephalopathy 50	616457	AR	3	](https://omim.org/entry/616457){:target="_blank"}|
-|[CALM1](notebooks/CALM1/CALM1_LQTS14_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Long QT syndrome 14](https://omim.org/entry/616247){:target="_blank"}|
-|[CALM2](notebooks/CALM2/CALM2_LQTS15_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Long QT syndrome 15](https://omim.org/entry/616249){:target="_blank"}|
-|[CAPN1](notebooks/CAPN1/CAPN1_SPG76_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Spastic paraplegia 76, autosomal recessive](https://omim.org/entry/616907){:target="_blank"}|
-|[CAPRIN1](notebooks/CAPRIN1){:target="_blank"}|14 Phenopackets;[Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder](https://omim.org/entry/620782){:target="_blank"}[Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline](https://omim.org/entry/620636){:target="_blank"}|
-|[CARD9](notebooks/CARD9/CARD9_IMD103_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Immunodeficiency 103, susceptibility to fungal infection](https://omim.org/entry/212050){:target="_blank"}|
-|[CASP2](notebooks/CASP2/CASP2_MRT80_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly](https://omim.org/entry/620653){:target="_blank"}|
-|[CAV3](notebooks/CAV3/CAV3_MPDT_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Myopathy, distal, Tateyama type](https://omim.org/entry/614321){:target="_blank"}|
-|[CBLB](notebooks/CBLB/CBLB_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Autoimmune disease, multisystem, infantile-onset, 3](https://omim.org/entry/620430){:target="_blank"}|
-|[CBS](notebooks/CBS/CBS_homocystinuria_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Homocystinuria, B6-responsive and nonresponsive types](https://omim.org/entry/236200){:target="_blank"}|
-|[CCNQ](notebooks/CCNQ/CCNQ_STAR_individuals.ipynb){:target="_blank"}|6 Phenopackets;[STAR syndrome](https://omim.org/entry/300707){:target="_blank"}|
-|[CDH3](notebooks/CDH3/CDH3_HJMD_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Hypotrichosis, congenital, with juvenile macular dystrophy](https://omim.org/entry/601553){:target="_blank"}|
-|[CDK10](notebooks/CDK10/CDK10_ALKAS_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Al Kaissi syndrome](https://omim.org/entry/617694){:target="_blank"}|
-|[CDK5RAP2](notebooks/CDK5RAP2/CDK5RAP2_MCPH3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Microcephaly 3, primary, autosomal recessive](https://omim.org/entry/604804){:target="_blank"}|
-|[CENPJ](notebooks/CENPJ/CENPJ_MCPH6.ipynb){:target="_blank"}|3 Phenopackets;[Microcephaly 6, primary, autosomal recessive](https://omim.org/entry/608393){:target="_blank"}|
-|[CEP295](notebooks/CEP295/CEP295_SCKL11_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Seckel syndrome 11](https://omim.org/entry/620767){:target="_blank"}|
-|[CFL2](notebooks/CFL2/CFL2_NEM7_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Nemaline myopathy 7, autosomal recessive](https://omim.org/entry/610687){:target="_blank"}|
-|[CHD7](notebooks/CHD7/CHD7_CHARGE_individuals.ipynb){:target="_blank"}|6 Phenopackets;[CHARGE syndrome](https://omim.org/entry/214800){:target="_blank"}|
-|[CHRDL1](notebooks/CHRDL1/CHRDL1_MGC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Megalocornea 1, X-linked](https://omim.org/entry/309300){:target="_blank"}|
-|[CHST14](notebooks/CHST14/CHST14_EDSMC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ehlers-Danlos syndrome, musculocontractural type 1](https://omim.org/entry/601776){:target="_blank"}|
-|[CHSY1](notebooks/CHSY1/CHSY1_TPBS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Temtamy preaxial brachydactyly syndrome](https://omim.org/entry/605282){:target="_blank"}|
-|[CLCN1](notebooks/CLCN1/CLCN1_MCD_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Myotonia congenita, dominant](https://omim.org/entry/160800){:target="_blank"}|
-|[CLDN16](notebooks/CLDN16/CLDN16_HOMG3_individuals.ipynb){:target="_blank"}|46 Phenopackets;[Hypomagnesemia 3, renal](https://omim.org/entry/248250){:target="_blank"}|
-|[CLXN](notebooks/CLXN/CLXN_CILD53_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Ciliary dyskinesia, primary, 53](https://omim.org/entry/620642){:target="_blank"}|
-|[COG3](notebooks/COG3/COG3_CDG2BB_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Congenital disorder of glycosylation, type IIbb](https://omim.org/entry/620546){:target="_blank"}|
-|[COG8](notebooks/COG8/COG8_CDG2H_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Congenital disorder of glycosylation, type IIh](https://omim.org/entry/611182){:target="_blank"}|
-|[COL11A1](notebooks/COL11A1/COL11A1_STL2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Stickler syndrome, type II](https://omim.org/entry/604841){:target="_blank"}|
-|[COL2A1](notebooks/COL2A1/COL2A1_STL1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Stickler syndrome, type I](https://omim.org/entry/108300){:target="_blank"}|
-|[COL3A1](notebooks/COL3A1/COL3A1_Summary.ipynb){:target="_blank"}|41 Phenopackets;[Ehlers-Danlos syndrome, vascular type](https://omim.org/entry/130050){:target="_blank"}[Polymicrogyria with or without vascular-type EDS](https://omim.org/entry/618343){:target="_blank"}|
-|[COL5A1](notebooks/COL5A1/COL5A1_EDSCL1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ehlers-Danlos syndrome, classic type, 1](https://omim.org/entry/130000){:target="_blank"}|
-|[COL5A2](notebooks/COL5A2/COL5A2_EDSCL2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ehlers-Danlos syndrome, classic type, 2](https://omim.org/entry/130010){:target="_blank"}|
-|[COL6A1](notebooks/COL6A1/COL6A1_BTHLM1A_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bethlem myopathy 1A](https://omim.org/entry/158810){:target="_blank"}|
-|[COL6A2](notebooks/COL6A2/COL6A2_UCMD1B_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Ullrich congenital muscular dystrophy 1B](https://omim.org/entry/620727){:target="_blank"}|
-|[COL6A3](notebooks/COL6A3){:target="_blank"}|7 Phenopackets;[Ullrich congenital muscular dystrophy 1C](https://omim.org/entry/620728){:target="_blank"}[Bethlem myopathy 1C](https://omim.org/entry/620726){:target="_blank"}|
-|[COMP](notebooks/COMP/COMP_PSACH_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Pseudoachondroplasia](https://omim.org/entry/177170){:target="_blank"}|
-|[COQ4](notebooks/COQ4/COQ4_SPAX10_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Spastic ataxia 10, autosomal recessive](https://omim.org/entry/620666){:target="_blank"}|
-|[COQ7](notebooks/COQ7/COQ7_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Neuronopathy, distal hereditary motor, autosomal recessive 9](https://omim.org/entry/620402){:target="_blank"}|
-|[CORIN](notebooks/CORIN/CORIN_CMH30_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Cardiomyopathy, familial hypertrophic, 30, atrial](https://omim.org/entry/620734){:target="_blank"}|
-|[CRELD1](notebooks/CRELD1){:target="_blank"}|21 Phenopackets;[Jeffries-Lakhani neurodevelopmental syndrome](https://omim.org/entry/620771){:target="_blank"}[Atrioventricular septal defect, partial, with heterotaxy syndrome](https://omim.org/entry/606217){:target="_blank"}|
-|[CRX](notebooks/CRX/CRX_CORD2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cone-rod retinal dystrophy-2](https://omim.org/entry/120970){:target="_blank"}|
-|[CSTF2](notebooks/CSTF2/CSTF2_XLID113_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Intellectual developmental disorder, X-linked 113](https://omim.org/entry/301116){:target="_blank"}|
-|[CTCF](notebooks/CTCF/CTCF_MRD21_individuals.ipynb){:target="_blank"}|46 Phenopackets;[Intellectual developmental disorder, autosomal dominant 21](https://omim.org/entry/615502){:target="_blank"}|
-|[CTSA](notebooks/CTSA/CTSA_GSL_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Galactosialidosis](https://omim.org/entry/256540){:target="_blank"}|
-|[CWC27](notebooks/CWC27/CWC27_RPSKA_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Retinitis pigmentosa with or without skeletal anomalies](https://omim.org/entry/250410){:target="_blank"}|
-|[CYP27B1](notebooks/CYP27B1/CYP27B1_VDDR1A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Vitamin D-dependent rickets, type I](https://omim.org/entry/264700){:target="_blank"}|
-|[DAW1](notebooks/DAW1/DAW1_CILD52_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Ciliary dyskinesia, primary, 52](https://omim.org/entry/620570){:target="_blank"}|
-|[DBR1](notebooks/DBR1/DBR1_XGIP_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Xerosis and growth failure with immune and pulmonary dysfunction syndrome](https://omim.org/entry/620510){:target="_blank"}|
-|[DBT](notebooks/DBT/DBT_MSUD2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Maple syrup urine disease, type II](https://omim.org/entry/620699){:target="_blank"}|
-|[DDX59](notebooks/DDX59/DDX59_OFD5_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Orofaciodigital syndrome V](https://omim.org/entry/174300){:target="_blank"}|
-|[DEPDC5](notebooks/DEPDC5/DEPDC5_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Developmental and epileptic encephalopathy 111](https://omim.org/entry/620504){:target="_blank"}|
-|[DHCR24](notebooks/DHCR24/DHCR24_Desmosterolosis_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Desmosterolosis](https://omim.org/entry/602398){:target="_blank"}|
-|[DHCR7](notebooks/DHCR7/DHCR7_SLOS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Smith-Lemli-Opitz syndrome](https://omim.org/entry/270400){:target="_blank"}|
-|[DLG5](notebooks/DLG5/DLG5_YUVOB_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Yuksel-Vogel-Bauser syndrome](https://omim.org/entry/620703){:target="_blank"}|
-|[DLL3](notebooks/DLL3/DLL3_SCDO1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Spondylocostal dysostosis 1, autosomal recessive](https://omim.org/entry/277300){:target="_blank"}|
-|[DNM2](notebooks/DNM2/DNM2_CNM1_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Centronuclear myopathy 1](https://omim.org/entry/160150){:target="_blank"}|
-|[DOCK11](notebooks/DOCK11/DOCK11_ADMIDX_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Autoinflammatory disease, multisystem, with immune dysregulation, X-linked](https://omim.org/entry/301109){:target="_blank"}|
-|[DOCK8](notebooks/DOCK8){:target="_blank"}|13 Phenopackets;[Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections](https://omim.org/entry/243700){:target="_blank"}|
-|[DRG1](notebooks/DRG1/DRG1_TANALS_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Tan-Almurshedi syndrome](https://omim.org/entry/620641){:target="_blank"}|
-|[DYM](notebooks/DYM/DYM_DMC_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Dyggve-Melchior-Clausen disease](https://omim.org/entry/223800){:target="_blank"}|
-|[DYRK1A](notebooks/DYRK1A/DYRK1A_MRD7_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Intellectual developmental disorder, autosomal dominant 7](https://omim.org/entry/614104){:target="_blank"}|
-|[EDA](notebooks/EDA/EDA_XHED_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ectodermal dysplasia 1, hypohidrotic, X-linked](https://omim.org/entry/305100){:target="_blank"}|
-|[EFEMP1](notebooks/EFEMP1){:target="_blank"}|9 Phenopackets;[Cutis laxa, autosomal recessive, type ID](https://omim.org/entry/620780){:target="_blank"}[Glaucoma 1, open angle, H](https://omim.org/entry/611276){:target="_blank"}|
-|[EFNB1](notebooks/EFNB1/EFNB1_CFNS_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Craniofrontonasal dysplasia](https://omim.org/entry/304110){:target="_blank"}|
-|[EIF4A2](notebooks/EIF4A2/EIF4A2_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures](https://omim.org/entry/620455){:target="_blank"}|
-|[EP300](notebooks/EP300/EP300_RST2_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Rubinstein-Taybi syndrome 2](https://omim.org/entry/613684){:target="_blank"}|
-|[EPB42](notebooks/EPB42/EPB42_SPH5_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Spherocytosis, type 5](https://omim.org/entry/612690){:target="_blank"}|
-|[EPG5](notebooks/EPG5/EPG5_Vici_individuals.ipynb){:target="_blank"}|17 Phenopackets;[Vici syndrome](https://omim.org/entry/242840){:target="_blank"}|
-|[ERCC3](notebooks/ERCC3/ERCC3_TTD2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Trichothiodystrophy 2, photosensitive](https://omim.org/entry/616390){:target="_blank"}|
-|[ERCC6](notebooks/ERCC6/ERCC6_CSB_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cockayne syndrome, type B](https://omim.org/entry/133540){:target="_blank"}|
-|[ERCC8](notebooks/ERCC8/ERCC8_CSA_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Cockayne syndrome, type A](https://omim.org/entry/216400){:target="_blank"}|
-|[ERF](notebooks/ERF/ERF_CHYTS_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Chitayat syndrome](https://omim.org/entry/617180){:target="_blank"}|
-|[ERI1](notebooks/ERI1){:target="_blank"}|10 Phenopackets;[Spondyloepimetaphyseal dysplasia, Guo-Campeau type](https://omim.org/entry/620663){:target="_blank"}[Hoxha-Aliu syndrome](https://omim.org/entry/620662){:target="_blank"}|
-|[ESAM](notebooks/ESAM/ESAM_Lecca_2023.ipynb){:target="_blank"}|14 Phenopackets;[Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity](https://omim.org/entry/620371){:target="_blank"}|
-|[EXTL3](notebooks/EXTL3/EXTL3_ISDNA_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Immunoskeletal dysplasia with neurodevelopmental abnormalitie](https://omim.org/entry/617425){:target="_blank"}|
-|[EZH1](notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb){:target="_blank"}|19 Phenopackets;[EZH1-related neurodevelopmental disorder](https://omim.org/entry/601674){:target="_blank"}|
-|[FANCC](notebooks/FANCC/FANCC_Fanconi_Anemia.ipynb){:target="_blank"}|4 Phenopackets;[Fanconi anemia, complementation group C](https://omim.org/entry/227645){:target="_blank"}|
-|[FANCI](notebooks/FANCI/FANCI_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Fanconi anemia, complementation group I](https://omim.org/entry/609053){:target="_blank"}|
-|[FBLN5](notebooks/FBLN5/FBLN5_ARCL1A_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Cutis laxa, autosomal recessive, type IA](https://omim.org/entry/219100){:target="_blank"}|
-|[FBN1](notebooks/FBN1/Summary_FBN1.ipynb){:target="_blank"}|151 Phenopackets;[Marfan syndrome](https://omim.org/entry/154700){:target="_blank"}[Ectopia lentis, familial](https://omim.org/entry/129600){:target="_blank"}[Marfan lipodystrophy syndrome](https://omim.org/entry/616914){:target="_blank"}[Acromicric dysplasia](https://omim.org/entry/102370){:target="_blank"}[Geleophysic dysplasia 2](https://omim.org/entry/614185){:target="_blank"}[Stiff skin syndrome](https://omim.org/entry/184900){:target="_blank"}|
-|[FBN2](notebooks/FBN2/FBN2_CCA_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Contractural arachnodactyly, congenital](https://omim.org/entry/121050){:target="_blank"}|
-|[FBXL4](notebooks/FBXL4/FBXL4-curation.ipynb){:target="_blank"}|94 Phenopackets;[Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)](https://omim.org/entry/615471){:target="_blank"}|
-|[FBXO11](notebooks/FBXO11/FBXO11_IDDFBA_individuals.ipynb){:target="_blank"}|20 Phenopackets;[Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities](https://omim.org/entry/618089){:target="_blank"}|
-|[FBXO7](notebooks/FBXO7/FBXO7_PARK15_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Parkinson disease 15, autosomal recessive](https://omim.org/entry/260300){:target="_blank"}|
-|[FERMT3](notebooks/FERMT3/FERMT3_LAD3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Leukocyte adhesion deficiency, type III](https://omim.org/entry/612840){:target="_blank"}|
-|[FGD1](notebooks/FGD1/FGD1_AAS_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Aarskog-Scott syndrome](https://omim.org/entry/305400){:target="_blank"}|
-|[FGFR2](notebooks/FGFR2/FGFR2_Apert_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Apert syndrome](https://omim.org/entry/101200){:target="_blank"}|
-|[FGFR3](notebooks/FGFR3){:target="_blank"}|2 Phenopackets;[Muenke syndrome](https://omim.org/entry/602849){:target="_blank"}[Hypochondroplasia](https://omim.org/entry/146000){:target="_blank"}|
-|[FKBP10](notebooks/FKBP10/FKBP10_OI11_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Osteogenesis imperfecta, type XI](https://omim.org/entry/610968){:target="_blank"}|
-|[FLNB](notebooks/FLNB/FLNB_Larsen_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Larsen syndrome](https://omim.org/entry/150250){:target="_blank"}|
-|[FOSL2](notebooks/FOSL2/FOSL2_ACED_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Aplasia cutis-enamel dysplasia syndrome](https://omim.org/entry/620789){:target="_blank"}|
-|[FOXE1](notebooks/FOXE1/FOXE1_BAMLAZ_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Bamforth-Lazarus syndrome](https://omim.org/entry/241850){:target="_blank"}|
-|[FOXG1](notebooks/FOXG1/FOXG1_Rett_variant_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Rett syndrome, congenital variant](https://omim.org/entry/613454){:target="_blank"}|
-|[FTH1](notebooks/FTH1/FTH1_NBIA9_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Neurodegeneration with brain iron accumulation 9](https://omim.org/entry/620669){:target="_blank"}|
-|[FYB1](notebooks/FYB1/FYB1_THC3_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Thrombocytopenia 3](https://omim.org/entry/273900){:target="_blank"}|
-|[FZD5](notebooks/FZD5/FZD5_MCOPCB11_individuals.ipynb){:target="_blank"}|28 Phenopackets;[Microphthalmia/coloboma 11](https://omim.org/entry/620731){:target="_blank"}|
-|[GABBR1](notebooks/GABBR1/GABBR1_NEDLC_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Neurodevelopmental disorder with language delay and variable cognitive abnormalities](https://omim.org/entry/620502){:target="_blank"}|
-|[GALC](notebooks/GALC/GALC_KRD_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Krabbe disease](https://omim.org/entry/245200){:target="_blank"}|
-|[GALT](notebooks/GALT/GALT_GALAC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Galactosemia](https://omim.org/entry/230400){:target="_blank"}|
-|[GCDH](notebooks/GCDH/GCDH_GA1.ipynb){:target="_blank"}|7 Phenopackets;[Glutaricaciduria, type I](https://omim.org/entry/231670){:target="_blank"}|
-|[GCSH](notebooks/GCSH/GCSH_Summary.ipynb){:target="_blank"}|9 Phenopackets;[Multiple mitochondrial dysfunctions syndrome 7](https://omim.org/entry/620423){:target="_blank"}|
-|[GIPC3](notebooks/GIPC3/GIPC3_DFNB15_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Deafness, autosomal recessive 15](https://omim.org/entry/601869){:target="_blank"}|
-|[GLB1](notebooks/GLB1/GLB1_GM1G3_individuals.ipynb){:target="_blank"}|2 Phenopackets;[GM1-gangliosidosis, type III](https://omim.org/entry/230650){:target="_blank"}|
-|[GLI3](notebooks/GLI3){:target="_blank"}|82 Phenopackets;[Pallister-Hall syndrome](https://omim.org/entry/146510){:target="_blank"}[Greig cephalopolysyndactyly syndrome](https://omim.org/entry/175700){:target="_blank"}[Polydactyly, postaxial, types A1 and B](https://omim.org/entry/174200){:target="_blank"}|
-|[GLRA1](notebooks/GLRA1/GLRA1_HKPX1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyperekplexia 1](https://omim.org/entry/149400){:target="_blank"}|
-|[GLUL](notebooks/GLUL/GLUL_DEE116_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Developmental and epileptic encephalopathy 116](https://omim.org/entry/620806){:target="_blank"}|
-|[GNAO1](notebooks/GNAO1/GNAO1_DEE17_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Developmental and epileptic encephalopathy 17 ](https://omim.org/entry/615473){:target="_blank"}|
-|[GNB1](notebooks/GNB1/GNB1_MRD42_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Intellectual developmental disorder, autosomal dominant 42](https://omim.org/entry/616973){:target="_blank"}|
-|[GNPTAB](notebooks/GNPTAB/GNPTAB_ML3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Mucolipidosis III alpha/beta](https://omim.org/entry/252600){:target="_blank"}|
-|[GPSM2](notebooks/GPSM2/GPSM2_CMCS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Chudley-McCullough syndrome](https://omim.org/entry/604213){:target="_blank"}|
-|[GRHPR](notebooks/GRHPR/GRHPR_HP2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyperoxaluria, primary, type II](https://omim.org/entry/260000){:target="_blank"}|
-|[GSN](notebooks/GSN/GSN_AMYLD4_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Amyloidosis, Finnish type](https://omim.org/entry/105120){:target="_blank"}|
-|[GTF2H5](notebooks/GTF2H5/GTF2H5_TTD3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Trichothiodystrophy 3, photosensitive](https://omim.org/entry/616395){:target="_blank"}|
-|[HCN4](notebooks/HCN4/HCN4_SSS2_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Sick sinus syndrome 2](https://omim.org/entry/163800){:target="_blank"}|
-|[HMBS](notebooks/HMBS){:target="_blank"}|7 Phenopackets;[Encephalopathy, porphyria-related](https://omim.org/entry/620704){:target="_blank"}[Leukoencephalopathy, porphyria-related](https://omim.org/entry/620711){:target="_blank"}|
-|[HMGCR](notebooks/HMGCR/HMGCR_summary.ipynb){:target="_blank"}|15 Phenopackets;[Muscular dystrophy, limb-girdle, autosomal recessive 28](https://omim.org/entry/620375){:target="_blank"}|
-|[HMGCS2](notebooks/HMGCS2/HMGCS2_individuals.ipynb){:target="_blank"}|29 Phenopackets;[HMG-CoA synthase-2 deficiency](https://omim.org/entry/605911){:target="_blank"}|
-|[HNF1B](notebooks/HNF1B/HNF1B_RCAD_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Renal cysts and diabetes syndrome](https://omim.org/entry/137920){:target="_blank"}|
-|[HNRNPC](notebooks/HNRNPC/HNRNPC_MRD74_individuals.ipynb){:target="_blank"}|13 Phenopackets;[Intellectual developmental disorder, autosomal dominant 74](https://omim.org/entry/620688){:target="_blank"}|
-|[HNRPA2B1](notebooks/HNRPA2B1/HNRPA2B1_KIM_2022.ipynb){:target="_blank"}|11 Phenopackets;[Oculopharyngeal muscular dystrophy 2](https://omim.org/entry/620460){:target="_blank"}|
-|[HOXC13](notebooks/HOXC13/HOXC13_ECTD9_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Ectodermal dysplasia 9, hair/nail type](https://omim.org/entry/614931){:target="_blank"}|
-|[ICOSLG](notebooks/ICOSLG/ICOSLG_IMD119_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Immunodeficiency 119](https://omim.org/entry/620825){:target="_blank"}|
-|[INPPL1](notebooks/INPPL1/INPPL1_OPSMD_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Opsismodysplasia](https://omim.org/entry/258480){:target="_blank"}|
-|[INSR](notebooks/INSR/INSR_DS_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Donohue syndrome](https://omim.org/entry/246200){:target="_blank"}|
-|[INTS11](notebooks/INTS11/INTS11_Tepe_2023.ipynb){:target="_blank"}|15 Phenopackets;[Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities](https://omim.org/entry/620428){:target="_blank"}|
-|[IRF1](notebooks/IRF1/IRF1_IMD117_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Immunodeficiency 117, mycobacteriosis, autosomal recessive](https://omim.org/entry/620668){:target="_blank"}|
-|[ISCA2](notebooks/ISCA2/ISCA2_cohort.ipynb){:target="_blank"}|16 Phenopackets;[Multiple mitochondrial dysfunctions syndrome 4](https://omim.org/entry/616370){:target="_blank"}|
-|[ITPR1](notebooks/ITPR1){:target="_blank"}|80 Phenopackets;[Gillespie syndrome](https://omim.org/entry/206700){:target="_blank"}[Spinocerebellar ataxia 29, congenital nonprogressive](https://omim.org/entry/117360){:target="_blank"}[Spinocerebellar ataxia 15](https://omim.org/entry/606658){:target="_blank"}|
-|[JAG1](notebooks/JAG1/JAG1_ALGS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Alagille syndrome 1](https://omim.org/entry/118450){:target="_blank"}|
-|[KCNH5](notebooks/KCNH5/KCNH5_individuals.ipynb){:target="_blank"}|22 Phenopackets;[Developmental and epileptic encephalopathy 112](https://omim.org/entry/620537){:target="_blank"}|
-|[KCNJ2](notebooks/KCNJ2/KCNJ2_SQT3_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Short QT syndrome 3](https://omim.org/entry/609622){:target="_blank"}|
-|[KCNQ1](notebooks/KCNQ1/KCNQ1_JLNS1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Jervell and Lange-Nielsen syndrome](https://omim.org/entry/220400){:target="_blank"}|
-|[KCNT1](notebooks/KCNT1/KCNT1_DEE14_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Developmental and epileptic encephalopathy 14](https://omim.org/entry/614959){:target="_blank"}|
-|[KDM5A](notebooks/KDM5A/KDM5A_NEDEHC_individuals.ipynb){:target="_blank"}|9 Phenopackets;[El Hayek-Chahrour neurodevelopmental syndrome](https://omim.org/entry/620820){:target="_blank"}|
-|[KDM6A](notebooks/KDM6A/KDM6A_KABUK2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Kabuki syndrome 2](https://omim.org/entry/300867){:target="_blank"}|
-|[KDM6B](notebooks/KDM6B/KDM6B_PMID_37196654.ipynb){:target="_blank"}|73 Phenopackets;[Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities](https://omim.org/entry/618505){:target="_blank"}|
-|[KIF5A](notebooks/KIF5A/KIF5A_SPG10_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Spastic paraplegia 10, autosomal dominant](https://omim.org/entry/604187){:target="_blank"}|
-|[KMT2D](notebooks/KMT2D/KMT2D_KABUK1_individuals.ipynb){:target="_blank"}|65 Phenopackets;[Kabuki Syndrome 1](https://omim.org/entry/147920){:target="_blank"}|
-|[KRAS](notebooks/KRAS){:target="_blank"}|8 Phenopackets;[Noonan syndrome 3](https://omim.org/entry/609942){:target="_blank"}[Cardiofaciocutaneous syndrome 2](https://omim.org/entry/615278){:target="_blank"}|
-|[KRT10](notebooks/KRT10/KRT10_EHK2B_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Epidermolytic hyperkeratosis 2B, autosomal recessive](https://omim.org/entry/620707){:target="_blank"}|
-|[KRT9](notebooks/KRT9/KRT9_EPPK1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Palmoplantar keratoderma, epidermolytic, 1](https://omim.org/entry/144200){:target="_blank"}|
-|[LAMB2](notebooks/LAMB2/LAMB2_NPHS5_individuals.ipynb){:target="_blank"}|26 Phenopackets;[Nephrotic syndrome, type 5, with or without ocular abnormalities](https://omim.org/entry/614199){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 10](https://omim.org/entry/614204){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 7](https://omim.org/entry/614201){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 8](https://omim.org/entry/614202){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 9](https://omim.org/entry/614203){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 6](https://omim.org/entry/614200){:target="_blank"}|
-|[LAMB3](notebooks/LAMB3/LAMB3_AI1A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Amelogenesis imperfecta, type IA](https://omim.org/entry/104530){:target="_blank"}|
-|[LIPT2](notebooks/LIPT2/LIPT2_NELABA_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities](https://omim.org/entry/617668){:target="_blank"}|
-|[LITAF](notebooks/LITAF/LITAF_CMT1C_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Charcot-Marie-Tooth disease, type 1C](https://omim.org/entry/601098){:target="_blank"}|
-|[LMNA](notebooks/LMNA/LMNA_Summary.ipynb){:target="_blank"}|127 Phenopackets;[Emery-Dreifuss muscular dystrophy 2, autosomal dominant](https://omim.org/entry/181350){:target="_blank"}[Cardiomyopathy, dilated, 1A](https://omim.org/entry/115200){:target="_blank"}[Lipodystrophy, familial partial, type 2](https://omim.org/entry/151660){:target="_blank"}[LMNA-related congenital muscular dystrophy](https://omim.org/entry/613205){:target="_blank"}[Hutchinson-Gilford progeria](https://omim.org/entry/176670){:target="_blank"}|
-|[LMX1B](notebooks/LMX1B/LMX1B_NPS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Nail-patella syndrome](https://omim.org/entry/161200){:target="_blank"}|
-|[LONP1](notebooks/LONP1/LONP1_CODAS_individuals.ipynb){:target="_blank"}|8 Phenopackets;[CODAS syndrome](https://omim.org/entry/600373){:target="_blank"}|
-|[LYN](notebooks/LYN/LYN_Summary.ipynb){:target="_blank"}|4 Phenopackets;[Autoinflammatory disease, systemic, with vasculitis](https://omim.org/entry/620376){:target="_blank"}|
-|[LYST](notebooks/LYST/LYST_CHS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Chediak-Higashi syndrome](https://omim.org/entry/214500){:target="_blank"}|
-|[LZTR1](notebooks/LZTR1/LZTR1_NS2_individuals.ipynb){:target="_blank"}|20 Phenopackets;[Noonan syndrome 2](https://omim.org/entry/605275){:target="_blank"}|
-|[MAF](notebooks/MAF/MAF_AYGRP_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ayme-Gripp syndrome](https://omim.org/entry/601088){:target="_blank"}|
-|[MANF](notebooks/MANF/MANF_DDDS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Diabetes, deafness, developmental delay, and short stature syndrome](https://omim.org/entry/620651){:target="_blank"}|
-|[MAP3K14](notebooks/MAP3K14/MAP3K14_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Immunodeficiency 112](https://omim.org/entry/620449){:target="_blank"}|
-|[MAPK8IP3](notebooks/MAPK8IP3/MAPK8IP3_summary.ipynb){:target="_blank"}|20 Phenopackets;[Neurodevelopmental disorder with or without variable brain abnormalities](https://omim.org/entry/618443){:target="_blank"}|
-|[MAX](notebooks/MAX/MAX_PDMCS_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Polydactyly-macrocephaly syndrome](https://omim.org/entry/620712){:target="_blank"}|
-|[MCOLN1](notebooks/MCOLN1/MCOLN1_ML4_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Mucolipidosis IV](https://omim.org/entry/252650){:target="_blank"}|
-|[MCTS1](notebooks/MCTS1/MCTS1_IMD118_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Immunodeficiency 118, mycobacteriosis](https://omim.org/entry/301115){:target="_blank"}|
-|[MECR](notebooks/MECR/MECR_OPA16_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Optic atrophy 16](https://omim.org/entry/620629){:target="_blank"}|
-|[MED23](notebooks/MED23/MED23_MRT18_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy](https://omim.org/entry/614249){:target="_blank"}|
-|[MEIOB](notebooks/MEIOB/MEIOB_POF23_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Premature ovarian failure 23](https://omim.org/entry/620686){:target="_blank"}|
-|[MEN1](notebooks/MEN1/MEN1_MEN_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Multiple endocrine neoplasia 1](https://omim.org/entry/131100){:target="_blank"}|
-|[MFN2](notebooks/MFN2/MFN2_CMT2A2A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Charcot-Marie-Tooth disease, axonal, type 2A2A](https://omim.org/entry/609260){:target="_blank"}|
-|[MITF](notebooks/MITF/MITF_TADS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Tietz albinism-deafness syndrome](https://omim.org/entry/103500){:target="_blank"}|
-|[MPL](notebooks/MPL/MPL_THCYT2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Thrombocythemia 2](https://omim.org/entry/601977){:target="_blank"}|
-|[MPV17](notebooks/MPV17/MPV17_curation.ipynb){:target="_blank"}|50 Phenopackets;[Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)](https://omim.org/entry/256810){:target="_blank"}|
-|[MRAS](notebooks/MRAS/MRAS_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Noonan syndrome-11](https://omim.org/entry/618499){:target="_blank"}|
-|[MRPL39](notebooks/MRPL39/MRPL39_COXPD59_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Combined oxidative phosphorylation deficiency 59](https://omim.org/entry/620646){:target="_blank"}|
-|[MTOR](notebooks/MTOR/MTOR_SKS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Smith-Kingsmore syndrome](https://omim.org/entry/616638){:target="_blank"}|
-|[MUSK](notebooks/MUSK/MUSK_CMS9_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency](https://omim.org/entry/616325){:target="_blank"}|
-|[MYCN](notebooks/MYCN/MYCN_MPAPA_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Megalencephaly-polydactyly syndrome](https://omim.org/entry/620748){:target="_blank"}|
-|[MYH3](notebooks/MYH3/MYH3_DA2A_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Arthrogryposis, distal, type 2A (Freeman-Sheldon)](https://omim.org/entry/193700){:target="_blank"}|
-|[MYOT](notebooks/MYOT/MYOT_MFM3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Myopathy, myofibrillar, 3](https://omim.org/entry/609200){:target="_blank"}|
-|[MYT1L](notebooks/MYT1L/MYT1L_MRD39_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Intellectual developmental disorder, autosomal dominant 39](https://omim.org/entry/616521){:target="_blank"}|
-|[NAA60](notebooks/NAA60/NAA60_IBGC9_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Basal ganglia calcification, idiopathic, 9, autosomal recessive](https://omim.org/entry/620786){:target="_blank"}|
-|[NCF2](notebooks/NCF2/NCF2_CGD2_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Chronic granulomatous disease 2, autosomal recessive](https://omim.org/entry/233710){:target="_blank"}|
-|[NF1](notebooks/NF1/NF1_NF1_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Neurofibromatosis, type 1](https://omim.org/entry/162200){:target="_blank"}|
-|[NHLRC1](notebooks/NHLRC1/NHLRC1_MELF2_individuals.ipynb){:target="_blank"}|22 Phenopackets;[Myoclonic epilepsy of Lafora 2](https://omim.org/entry/620681){:target="_blank"}|
-|[NHS](notebooks/NHS/NHS_NHS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Nance-Horan syndrome](https://omim.org/entry/302350){:target="_blank"}|
-|[NIPBL](notebooks/NIPBL/NIPBL_CDLS1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Cornelia de Lange syndrome 1](https://omim.org/entry/122470){:target="_blank"}|
-|[NKX6-2](notebooks/NKX6-2/NKX6-2_SPAX8_individuals.ipynb){:target="_blank"}|33 Phenopackets;[Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy](https://omim.org/entry/617560){:target="_blank"}|
-|[NLRP3](notebooks/NLRP3/NLRP3_MWS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Muckle-Wells syndrome](https://omim.org/entry/191900){:target="_blank"}|
-|[NOTCH2](notebooks/NOTCH2/NOTCH2_HJCYS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hajdu-Cheney syndrome](https://omim.org/entry/102500){:target="_blank"}|
-|[NPC1](notebooks/NPC1/NPC1_NPC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Niemann-Pick disease, type C1](https://omim.org/entry/257220){:target="_blank"}|
-|[NPHS1](notebooks/NPHS1/NPHS1_NPHS1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Nephrotic syndrome, type 1](https://omim.org/entry/256300){:target="_blank"}|
-|[NPR2](notebooks/NPR2/NPR2_AMD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Acromesomelic dysplasia 1, Maroteaux type](https://omim.org/entry/602875){:target="_blank"}|
-|[NRAS](notebooks/NRAS/NRAS_NS6_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Noonan syndrome 6](https://omim.org/entry/613224){:target="_blank"}|
-|[NRL](notebooks/NRL/NRL_RP27_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Retinitis pigmentosa 27](https://omim.org/entry/613750){:target="_blank"}|
-|[NSUN2](notebooks/NSUN2/NSUN2_MRT5_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Intellectual developmental disorder, autosomal recessive 5](https://omim.org/entry/611091){:target="_blank"}|
-|[NSUN6](notebooks/NSUN6/NSUN6_MRT82_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Intellectual developmental disorder, autosomal recessive 82](https://omim.org/entry/620779){:target="_blank"}|
-|[NT5C2](notebooks/NT5C2/NT5C2_SPG45_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Spastic paraplegia 45, autosomal recessive](https://omim.org/entry/613162){:target="_blank"}|
-|[NUP54](notebooks/NUP54/NUP54_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Dystonia 37, early-onset, with striatal lesions](https://omim.org/entry/620427){:target="_blank"}|
-|[OCA2](notebooks/OCA2/OCA2_OCA2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Albinism, oculocutaneous, type II](https://omim.org/entry/203200){:target="_blank"}|
-|[OFD1](notebooks/OFD1/OFD1_Summary.ipynb){:target="_blank"}|19 Phenopackets;[Joubert syndrome 10](https://omim.org/entry/300804){:target="_blank"}[Orofaciodigital syndrome I](https://omim.org/entry/311200){:target="_blank"}[Simpson-Golabi-Behmel syndrome, type 2](https://omim.org/entry/300209){:target="_blank"}|
-|[OTUD6B](notebooks/OTUD6B/OTUD6B_IDDFSDA_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies](https://omim.org/entry/617452){:target="_blank"}|
-|[OTUD7A](notebooks/OTUD7A/OTUD7A_NEDHS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Neurodevelopmental disorder with hypotonia and seizures](https://omim.org/entry/620790){:target="_blank"}|
-|[PANK2](notebooks/PANK2/PANK2_NBIA1_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Neurodegeneration with brain iron accumulation 1](https://omim.org/entry/234200){:target="_blank"}|
-|[PARK7](notebooks/PARK7/PARK7_PARK7_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Parkinson disease 7, autosomal recessive early-onset](https://omim.org/entry/606324){:target="_blank"}|
-|[PAX3](notebooks/PAX3/PAX3_WS3_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Waardenburg syndrome, type 3](https://omim.org/entry/148820){:target="_blank"}|
-|[PAX4](notebooks/PAX4/PAX4_MODY9_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Maturity-onset diabetes of the young, type IX](https://omim.org/entry/612225){:target="_blank"}|
-|[PCDH19](notebooks/PCDH19/PCDH19_DEE9_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Developmental and epileptic encephalopathy 9](https://omim.org/entry/300088){:target="_blank"}|
-|[PCYT1A](notebooks/PCYT1A/PCYT1A_CGL5_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Lipodystrophy, congenital generalized, type 5](https://omim.org/entry/620680){:target="_blank"}|
-|[PI4K2A](notebooks/PI4K2A/PI4K2A_NEDMSB_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities](https://omim.org/entry/620732){:target="_blank"}|
-|[PIEZO2](notebooks/PIEZO2/PIEZO2_DAIPT_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Arthrogryposis, distal, with impaired proprioception and touch](https://omim.org/entry/617146){:target="_blank"}|
-|[PKHD1L1](notebooks/PKHD1L1/PKHD1L1_DFNB124_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Deafness, autosomal recessive 124](https://omim.org/entry/620794){:target="_blank"}|
-|[PLAA](notebooks/PLAA/PLAA_NDMSBA_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies](https://omim.org/entry/617527){:target="_blank"}|
-|[PLAAT3](notebooks/PLAAT3/PLAAT3_FPLD9_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Lipodystrophy, familial partial, type 9](https://omim.org/entry/620683){:target="_blank"}|
-|[PLCB4](notebooks/PLCB4/PLCB4_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Auriculocondylar syndrome 2B](https://omim.org/entry/620458){:target="_blank"}|
-|[PMP22](notebooks/PMP22/PMP22_HNPP_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Neuropathy, recurrent, with pressure palsies](https://omim.org/entry/162500){:target="_blank"}|
-|[PNPLA6](notebooks/PNPLA6){:target="_blank"}|17 Phenopackets;[Boucher-Neuhauser syndrome](https://omim.org/entry/215470){:target="_blank"}[Oliver-McFarlane syndrome](https://omim.org/entry/275400){:target="_blank"}|
-|[POGLUT1](notebooks/POGLUT1/POGLUT1_LGMDR21_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Muscular dystrophy, limb-girdle, autosomal recessive 21](https://omim.org/entry/617232){:target="_blank"}|
-|[POLR1A](notebooks/POLR1A){:target="_blank"}|22 Phenopackets;[Leukodystrophy, hypomyelinating, 27](https://omim.org/entry/620675){:target="_blank"}[Acrofacial dysostosis, Cincinnati type](https://omim.org/entry/616462){:target="_blank"}|
-|[POLR1D](notebooks/POLR1D/POLR1D_TCS2_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Treacher Collins syndrome 2](https://omim.org/entry/613717){:target="_blank"}|
-|[POMGNT1](notebooks/POMGNT1/POMGNT1_RP76_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Retinitis pigmentosa 76](https://omim.org/entry/617123){:target="_blank"}|
-|[POT1](notebooks/POT1/Kelich_2022_POT1.ipynb){:target="_blank"}|4 Phenopackets;[Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8](https://omim.org/entry/620367){:target="_blank"}|
-|[PPIB](notebooks/PPIB/PPIB_OI9_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Osteogenesis imperfecta, type IX](https://omim.org/entry/259440){:target="_blank"}|
-|[PPP1R13L](notebooks/PPP1R13L/PPP1R13L_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities](https://omim.org/entry/620519){:target="_blank"}|
-|[PPP2R1A](notebooks/PPP2R1A/Qian_PPP2R1A.ipynb){:target="_blank"}|60 Phenopackets;[Houge-Janssen syndrome 2](https://omim.org/entry/616362){:target="_blank"}|
-|[PRDM10](notebooks/PRDM10/PRDM10_vandebeek_2023.ipynb){:target="_blank"}|7 Phenopackets;[Birt-Hogg-Dube syndrome 2](https://omim.org/entry/620459){:target="_blank"}|
-|[PREPL](notebooks/PREPL/PREPL_CMS22_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Myasthenic syndrome, congenital, 22](https://omim.org/entry/616224){:target="_blank"}|
-|[PRF1](notebooks/PRF1/PRF1_FHL2_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Hemophagocytic lymphohistiocytosis, familial, 2](https://omim.org/entry/603553){:target="_blank"}|
-|[PRPF3](notebooks/PRPF3/PRPF3_RP18_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Retinitis pigmentosa 18](https://omim.org/entry/601414){:target="_blank"}|
-|[PRPF31](notebooks/PRPF31/PRPF31_RP11_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Retinitis pigmentosa 11](https://omim.org/entry/600138){:target="_blank"}|
-|[PRTHD1](notebooks/PRTHD1/PRTHD1_NEDPBA_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities](https://omim.org/entry/620747){:target="_blank"}|
-|[PSEN2](notebooks/PSEN2/PSEN2_AD2_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Alzheimer disease-4](https://omim.org/entry/606889){:target="_blank"}|
-|[PSMB9](notebooks/PSMB9/PSMB9_PRAAS6_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Proteasome-associated autoinflammatory syndrome 6](https://omim.org/entry/620796){:target="_blank"}|
-|[PSMD12](notebooks/PSMD12/PSMD12_STISS_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Stankiewicz-Isidor syndrome](https://omim.org/entry/617516){:target="_blank"}|
-|[PTPN11](notebooks/PTPN11/PTPN11_Summary.ipynb){:target="_blank"}|70 Phenopackets;[LEOPARD syndrome 1](https://omim.org/entry/151100){:target="_blank"}[Metachondromatosis](https://omim.org/entry/156250){:target="_blank"}[Noonan syndrome 1](https://omim.org/entry/163950){:target="_blank"}|
-|[PUM1](notebooks/PUM1/PUM1_NEDMSF_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism](https://omim.org/entry/620719){:target="_blank"}|
-|[PYCR1](notebooks/PYCR1/PYCR1_ARCL2B_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Cutis laxa, autosomal recessive, type IIB](https://omim.org/entry/612940){:target="_blank"}|
-|[PYGL](notebooks/PYGL/PYGL_GSD6_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Glycogen storage disease VI](https://omim.org/entry/232700){:target="_blank"}|
-|[RAB34](notebooks/RAB34/RAB34_OFD20_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Orofaciodigital syndrome XX](https://omim.org/entry/620718){:target="_blank"}|
-|[RAI1](notebooks/RAI1/RAI1_SMS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Smith-Magenis syndrome](https://omim.org/entry/182290){:target="_blank"}|
-|[RAP1B](notebooks/RAP1B/RAP1B_THC11_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies](https://omim.org/entry/620654){:target="_blank"}|
-|[RAP1GDS1](notebooks/RAP1GDS1/RAP1GDS1_AFDL_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Alfadhel syndrome](https://omim.org/entry/620655){:target="_blank"}|
-|[RECQL2](notebooks/RECQL2/RECQL2_WRN_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Werner syndrome](https://omim.org/entry/277700){:target="_blank"}|
-|[RERE](notebooks/RERE/RERE_NEDBEH_individuals.ipynb){:target="_blank"}|19 Phenopackets;[Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart](https://omim.org/entry/616975){:target="_blank"}|
-|[RET](notebooks/RET/RET_MEN2A_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Multiple endocrine neoplasia IIA](https://omim.org/entry/171400){:target="_blank"}|
-|[RETREG1](notebooks/RETREG1/RETREG1_HSAN2B_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Neuropathy, hereditary sensory and autonomic, type IIB](https://omim.org/entry/613115){:target="_blank"}|
-|[RGS9](notebooks/RGS9/RGS9_PERRS1_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Prolonged electroretinal response suppression 1](https://omim.org/entry/608415){:target="_blank"}|
-|[RGS9BP](notebooks/RGS9BP/RGS9BP_PERRS2_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Prolonged electroretinal response suppression 2](https://omim.org/entry/620344){:target="_blank"}|
-|[RNF31](notebooks/RNF31/RNF31_IMD115_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Immunodeficiency 115 with autoinflammation](https://omim.org/entry/620632){:target="_blank"}|
-|[ROR2](notebooks/ROR2/ROR2_Robinow_syndrome.ipynb){:target="_blank"}|25 Phenopackets;[Robinow syndrome, autosomal recessive](https://omim.org/entry/268310){:target="_blank"}|
-|[RPGRIP1](notebooks/RPGRIP1/RPGRIP1_Beryozkin_2021.ipynb){:target="_blank"}|229 Phenopackets;[Leber congenital amaurosis 6](https://omim.org/entry/613826){:target="_blank"}[Cone-rod dystrophy 13](https://omim.org/entry/608194){:target="_blank"}|
-|[RPS19](notebooks/RPS19/RPS19_DBA1_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Diamond-Blackfan anemia 1](https://omim.org/entry/105650){:target="_blank"}|
-|[RRM1](notebooks/RRM1/RRM1_PEOB6_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6](https://omim.org/entry/620647){:target="_blank"}|
-|[RTTN](notebooks/RTTN/RTTN_MSSP_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Microcephaly, short stature, and polymicrogyria with seizures](https://omim.org/entry/614833){:target="_blank"}|
-|[RUNX2](notebooks/RUNX2/RUNX2_CLCD1_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Cleidocranial dysplasia](https://omim.org/entry/119600){:target="_blank"}|
-|[RYR2](notebooks/RYR2/RYR2_CPVT1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ventricular tachycardia, catecholaminergic polymorphic, 1](https://omim.org/entry/604772){:target="_blank"}|
-|[SALL1](notebooks/SALL1/SALL1_TBS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Townes-Brocks syndrome 1](https://omim.org/entry/107480){:target="_blank"}|
-|[SAMD7](notebooks/SAMD7/SAMD7_MDCD_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Macular dystrophy with or without cone dysfunction](https://omim.org/entry/620762){:target="_blank"}|
-|[SAMD9L](notebooks/SAMD9L/SAMD9L_ATXPC_individuals.ipynb){:target="_blank"}|21 Phenopackets;[Ataxia-pancytopenia syndrome](https://omim.org/entry/159550){:target="_blank"}|
-|[SATB2](notebooks/SATB2/SATB2_GLASS_individuals.ipynb){:target="_blank"}|158 Phenopackets;[Glass syndrome](https://omim.org/entry/612313){:target="_blank"}|
-|[SC5D](notebooks/SC5D/SC5D_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Lathosterolosis](https://omim.org/entry/607330){:target="_blank"}|
-|[SCAF4](notebooks/SCAF4/SCAF4_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Fliedner-Zweier syndrome](https://omim.org/entry/620511){:target="_blank"}|
-|[SCARF2](notebooks/SCARF2/SCARF2_VDEGS_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Van den Ende-Gupta syndrome](https://omim.org/entry/600920){:target="_blank"}|
-|[SCN2A](notebooks/SCN2A){:target="_blank"}|393 Phenopackets;[Developmental and epileptic encephalopathy 11](https://omim.org/entry/613721){:target="_blank"}[Seizures, benign familial infantile, 3](https://omim.org/entry/607745){:target="_blank"}|
-|[SCN5A](notebooks/SCN5A/SCN5A_BRGDA1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Brugada syndrome 1](https://omim.org/entry/601144){:target="_blank"}|
-|[SCO2](notebooks/SCO2){:target="_blank"}|37 Phenopackets;[Mitochondrial complex IV deficiency, nuclear type 2](https://omim.org/entry/604377){:target="_blank"}[Myopia 6](https://omim.org/entry/608912){:target="_blank"}[Myopia 6](https://omim.org/entry/608911){:target="_blank"}[Myopia 6](https://omim.org/entry/608909){:target="_blank"}[Myopia 6](https://omim.org/entry/608910){:target="_blank"}[Myopia 6](https://omim.org/entry/608913){:target="_blank"}[Myopia 6](https://omim.org/entry/608908){:target="_blank"}|
-|[SEC61A1](notebooks/SEC61A1){:target="_blank"}|18 Phenopackets;[Immunodeficiency, common variable, 15](https://omim.org/entry/620670){:target="_blank"}[Tubulointerstitial kidney disease, autosomal dominant, 5](https://omim.org/entry/617056){:target="_blank"}[Neutropenia, severe congenital, 11, autosomal dominant](https://omim.org/entry/620674){:target="_blank"}|
-|[SERAC1](notebooks/SERAC1/SERAC1_MEGDEL_individuals.ipynb){:target="_blank"}|1 Phenopacket;[3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome](https://omim.org/entry/614739){:target="_blank"}|
-|[SETBP1](notebooks/SETBP1/SETBP1_Schinzel-Giedion_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Schinzel-Giedion midface retraction syndrome](https://omim.org/entry/269150){:target="_blank"}|
-|[SETD2](notebooks/SETD2){:target="_blank"}|29 Phenopackets;[Intellectual developmental disorder, autosomal dominant 70](https://omim.org/entry/620157){:target="_blank"}[Rabin-Pappas syndrome](https://omim.org/entry/620155){:target="_blank"}[Luscan-Lumish syndrome](https://omim.org/entry/616831){:target="_blank"}|
-|[SF3B4](notebooks/SF3B4/SF3B4_AFD1_individuals.ipynb){:target="_blank"}|26 Phenopackets;[Acrofacial dysostosis 1, Nager type](https://omim.org/entry/154400){:target="_blank"}|
-|[SHARPIN](notebooks/SHARPIN/SHARPIN_AIFID_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Autoinflammation with episodic fever and immune dysregulation](https://omim.org/entry/620795){:target="_blank"}|
-|[SKIC3](notebooks/SKIC3/SKIC3_THES1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Trichohepatoenteric syndrome 1](https://omim.org/entry/222470){:target="_blank"}|
-|[SLC19A1](notebooks/SLC19A1/SLC19A1_IMD114_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Immunodeficiency 114, folate-responsive](https://omim.org/entry/620603){:target="_blank"}|
-|[SLC32A1](notebooks/SLC32A1){:target="_blank"}|38 Phenopackets;[Generalized epilepsy with febrile seizures plus, type 12](https://omim.org/entry/620755){:target="_blank"}[Developmental and epileptic encephalopathy 114](https://omim.org/entry/620774){:target="_blank"}|
-|[SLC35C1](notebooks/SLC35C1/SLC35C1_CDG2C_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Congenital disorder of glycosylation, type IIc](https://omim.org/entry/266265){:target="_blank"}|
-|[SLC45A2](notebooks/SLC45A2/SLC45A2_Moreno2022PMID_36553465.ipynb){:target="_blank"}|30 Phenopackets;[Albinism, oculocutaneous, type IV](https://omim.org/entry/606574){:target="_blank"}|
-|[SLC4A1](notebooks/SLC4A1/SLC4A1_Summary.ipynb){:target="_blank"}|33 Phenopackets;[Spherocytosis, type 4](https://omim.org/entry/612653){:target="_blank"}[Cryohydrocytosis](https://omim.org/entry/185020){:target="_blank"}[Distal renal tubular acidosis 1](https://omim.org/entry/179800){:target="_blank"}[Distal renal tubular acidosis 4 with hemolytic anemia](https://omim.org/entry/611590){:target="_blank"}|
-|[SLC4A10](notebooks/SLC4A10/SLC4A10_NEDHBA_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities](https://omim.org/entry/620746){:target="_blank"}|
-|[SLC4A11](notebooks/SLC4A11/SLC4A11_FECD4_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Corneal dystrophy, Fuchs endothelial, 4](https://omim.org/entry/613268){:target="_blank"}|
-|[SLC6A8](notebooks/SLC6A8/SLC6A8_CCDS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cerebral creatine deficiency syndrome 1](https://omim.org/entry/300352){:target="_blank"}|
-|[SLC9A3](notebooks/SLC9A3/SLC9A3_DIAR8_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Diarrhea 8, secretory sodium, congenital](https://omim.org/entry/616868){:target="_blank"}|
-|[SMAD2](notebooks/SMAD2/SMAD2_LDS6_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Loeys-Dietz syndrome 6](https://omim.org/entry/619656){:target="_blank"}|
-|[SMAD3](notebooks/SMAD3/SMAD3_LDS3_individuals.ipynb){:target="_blank"}|49 Phenopackets;[Loeys-Dietz syndrome 3](https://omim.org/entry/613795){:target="_blank"}|
-|[SMAD4](notebooks/SMAD4/SMAD4_MYHRS_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Myhre syndrome](https://omim.org/entry/139210){:target="_blank"}|
-|[SMARCB1](notebooks/SMARCB1){:target="_blank"}|17 Phenopackets;[Coffin-Siris syndrome 3](https://omim.org/entry/614608){:target="_blank"}[Rhabdoid tumor predisposition syndrome 1](https://omim.org/entry/609322){:target="_blank"}|
-|[SMARCC2](notebooks/SMARCC2/SMARCC2_CSS8_individuals.ipynb){:target="_blank"}|65 Phenopackets;[Coffin-Siris syndrome 8](https://omim.org/entry/618362){:target="_blank"}|
-|[SMC3](notebooks/SMC3/SMC3_CDLS3_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Cornelia de Lange syndrome 3](https://omim.org/entry/610759){:target="_blank"}|
-|[SNAP29](notebooks/SNAP29/SNAP29_CEDNIK_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome](https://omim.org/entry/609528){:target="_blank"}|
-|[SNAPC4](notebooks/SNAPC4/SNAPC4_Frost_2023.ipynb){:target="_blank"}|10 Phenopackets;[Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction](https://omim.org/entry/620515){:target="_blank"}|
-|[SNX14](notebooks/SNX14/SNX14_SCAR20_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Spinocerebellar ataxia, autosomal recessive 20](https://omim.org/entry/616354){:target="_blank"}|
-|[SOCS1](notebooks/SOCS1/SOCS1_individuals.ipynb){:target="_blank"}|20 Phenopackets;[Autoinflammatory syndrome, familial, with or without immunodeficiency](https://omim.org/entry/619375){:target="_blank"}|
-|[SOD1](notebooks/SOD1/SOD1_ALS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Amyotrophic lateral sclerosis 1](https://omim.org/entry/105400){:target="_blank"}|
-|[SON](notebooks/SON/Dingemans_2022_SON_PMID_34521999.ipynb){:target="_blank"}|52 Phenopackets;[ZTTK SYNDROME](https://omim.org/entry/617140){:target="_blank"}|
-|[SP7](notebooks/SP7/SP7_OI12_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Osteogenesis imperfecta, type XII](https://omim.org/entry/613849){:target="_blank"}|
-|[SPG7](notebooks/SPG7/SPG7_SPG7_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Spastic paraplegia 7, autosomal recessive](https://omim.org/entry/607259){:target="_blank"}|
-|[SPIN4](notebooks/SPIN4/SPIN4_LJBS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Lui-Jee-Baron syndrome](https://omim.org/entry/301114){:target="_blank"}|
-|[SPINK5](notebooks/SPINK5/SPINK5_NS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Netherton syndrome](https://omim.org/entry/256500){:target="_blank"}|
-|[SPINT2](notebooks/SPINT2/SPINT2_DIAR3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Diarrhea 3, secretory sodium, congenital, syndromic](https://omim.org/entry/270420){:target="_blank"}|
-|[SPRED1](notebooks/SPRED1/SPRED1_LGSS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Legius syndrome](https://omim.org/entry/611431){:target="_blank"}|
-|[SPTA1](notebooks/SPTA1/SPTA1_EL2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Elliptocytosis-2](https://omim.org/entry/130600){:target="_blank"}|
-|[SPTAN1](notebooks/SPTAN1/SPTAN1_Summary.ipynb){:target="_blank"}|85 Phenopackets;[Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia](https://omim.org/entry/620538){:target="_blank"}[Developmental and epileptic encephalopathy 5](https://omim.org/entry/613477){:target="_blank"}[Neuronopathy, distal hereditary motor, autosomal dominant 11](https://omim.org/entry/620528){:target="_blank"}[Developmental delay with or without epilepsy](https://omim.org/entry/620540){:target="_blank"}|
-|[SPTSSA](notebooks/SPTSSA){:target="_blank"}|3 Phenopackets;[Spastic paraplegia 90A, autosomal dominant](https://omim.org/entry/620416){:target="_blank"}[Spastic paraplegia 90B, autosomal recessive](https://omim.org/entry/620417){:target="_blank"}|
-|[SRSF1](notebooks/SRSF1/SRSF1_Bogaert.ipynb){:target="_blank"}|15 Phenopackets;[Developmental and epileptic encephalopathy 28](https://omim.org/entry/616211){:target="_blank"}|
-|[ST14](notebooks/ST14/ST14_ARCI11_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Ichthyosis, congenital, autosomal recessive 11](https://omim.org/entry/602400){:target="_blank"}|
-|[STAT3](notebooks/STAT3/STAT3_HIES1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections](https://omim.org/entry/147060){:target="_blank"}|
-|[STK11](notebooks/STK11/STK11_PJS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Peutz-Jeghers syndrome](https://omim.org/entry/175200){:target="_blank"}|
-|[STX4](notebooks/STX4/STX4_DFNB123_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Deafness, autosomal recessive 123](https://omim.org/entry/620745){:target="_blank"}|
-|[STXBP1](notebooks/STXBP1/Xian_2022_STXBP1.ipynb){:target="_blank"}|463 Phenopackets;[Developmental and epileptic encephalopathy 4](https://omim.org/entry/612164){:target="_blank"}|
-|[SUOX](notebooks/SUOX/SUOX_Li_PMID_36303223_CreatePhenopackets.ipynb){:target="_blank"}|35 Phenopackets;[Sulfite oxidase deficiency](https://omim.org/entry/272300){:target="_blank"}|
-|[SV2A](notebooks/SV2A/SV2A_DEE113_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Developmental and epileptic encephalopathy 113](https://omim.org/entry/620772){:target="_blank"}|
-|[SYCP2L](notebooks/SYCP2L/SYCP2L_POF24_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Premature ovarian failure 24](https://omim.org/entry/620840){:target="_blank"}|
-|[TAF4](notebooks/TAF4){:target="_blank"}|10 Phenopackets;[Intellectual developmental disorder, autosomal dominant 73](https://omim.org/entry/620450){:target="_blank"}|
-|[TANGO2](notebooks/TANGO2/TANGO2_MECRCN_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration](https://omim.org/entry/616878){:target="_blank"}|
-|[TBCK](notebooks/TBCK/TBCK_IHPRF3_individuals.ipynb){:target="_blank"}|23 Phenopackets;[Hypotonia, infantile, with psychomotor retardation and characteristic facies 3](https://omim.org/entry/616900){:target="_blank"}|
-|[TBL1XR1](notebooks/TBL1XR1/TBL1XR1_PRPTS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Pierpont syndrome](https://omim.org/entry/602342){:target="_blank"}|
-|[TBX1](notebooks/TBX1){:target="_blank"}|26 Phenopackets;[DiGeorge syndrome](https://omim.org/entry/188400){:target="_blank"}|
-|[TBX5](notebooks/TBX5/TBX5_individuals.ipynb){:target="_blank"}|156 Phenopackets;[Holt-Oram syndrome](https://omim.org/entry/142900){:target="_blank"}|
-|[TCOF1](notebooks/TCOF1/TCOF1_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Treacher Collins syndrome 1](https://omim.org/entry/154500){:target="_blank"}|
-|[TECRL](notebooks/TECRL/TECRL_CPTV3_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Ventricular tachycardia, catecholaminergic polymorphic, 3](https://omim.org/entry/614021){:target="_blank"}|
-|[TEFM](notebooks/TEFM/TEFM_van_Haute_2023.ipynb){:target="_blank"}|7 Phenopackets;[Combined oxidative phosphorylation deficiency 58](https://omim.org/entry/620451){:target="_blank"}|
-|[TFAP2A](notebooks/TFAP2A/TFAP2A_BOFS_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Branchiooculofacial syndrome](https://omim.org/entry/113620){:target="_blank"}|
-|[TGFB1](notebooks/TGFB1/TGFB1_CAEND_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Camurati-Engelmann disease](https://omim.org/entry/131300){:target="_blank"}|
-|[TGFB2](notebooks/TGFB2/TGFB2_LDS4_individuals.ipynb){:target="_blank"}|35 Phenopackets;[Loeys-Dietz syndrome 4](https://omim.org/entry/614816){:target="_blank"}|
-|[TGFB3](notebooks/TGFB3/TGFB3_LDS5_individuals.ipynb){:target="_blank"}|43 Phenopackets;[Loeys-Dietz syndrome 5](https://omim.org/entry/615582){:target="_blank"}|
-|[TGFBR1](notebooks/TGFBR1){:target="_blank"}|29 Phenopackets;[Loeys-Dietz syndrome 1](https://omim.org/entry/609192){:target="_blank"}[Multiple self-healing squamous epithelioma, susceptibility to](https://omim.org/entry/132800){:target="_blank"}|
-|[TGFBR2](notebooks/TGFBR2/TGFBR2_LDS2_individuals.ipynb){:target="_blank"}|21 Phenopackets;[Loeys-Dietz syndrome 2](https://omim.org/entry/610168){:target="_blank"}|
-|[TGIF1](notebooks/TGIF1/TGIF1_HPE4_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Holoprosencephaly 4](https://omim.org/entry/142946){:target="_blank"}|
-|[TINF2](notebooks/TINF2/TINF2_DKCA3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Dyskeratosis congenita, autosomal dominant 3](https://omim.org/entry/613990){:target="_blank"}|
-|[TJP2](notebooks/TJP2/TJP2_PFIC4_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cholestasis, progressive familial intrahepatic 4](https://omim.org/entry/615878){:target="_blank"}|
-|[TMEM199](notebooks/TMEM199/TMEM199_CDG2P_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Congenital disorder of glycosylation, type Iip](https://omim.org/entry/616829){:target="_blank"}|
-|[TMEM260](notebooks/TMEM260/TMEM260_SHDRA_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Structural heart defects and renal anomalies syndrome](https://omim.org/entry/617478){:target="_blank"}|
-|[TMEM38B](notebooks/TMEM38B/TMEM38B_OI14_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Osteogenesis imperfecta, type XIV](https://omim.org/entry/615066){:target="_blank"}|
-|[TMTC4](notebooks/TMTC4/TMTC4_DFNB122_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Deafness, autosomal recessive 122](https://omim.org/entry/620714){:target="_blank"}|
-|[TOMM7](notebooks/TOMM7/TOMM7_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Garg-Mishra progeroid syndrome](https://omim.org/entry/620601){:target="_blank"}|
-|[TP53RK](notebooks/TP53RK/TP53RK_GAMOS4_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Galloway-Mowat syndrome 4](https://omim.org/entry/617730){:target="_blank"}|
-|[TPM2](notebooks/TPM2/TPM2_CMYP23_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Congenital myopathy 23](https://omim.org/entry/609285){:target="_blank"}|
-|[TPM3](notebooks/TPM3/TPM3_CMYP4B_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Congenital myopathy 4B, autosomal recessive](https://omim.org/entry/609284){:target="_blank"}|
-|[TRAF7](notebooks/TRAF7/TRAF7_Castilla-Vallmanya_2020.ipynb){:target="_blank"}|45 Phenopackets;[Cardiac, facial, and digital anomalies with developmental delay](https://omim.org/entry/618164){:target="_blank"}|
-|[TRMT10C](notebooks/TRMT10C/TRMT10C_COXPD30_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Combined oxidative phosphorylation deficiency 30](https://omim.org/entry/616974){:target="_blank"}|
-|[TRPS1](notebooks/TRPS1/TRPS1_TRPS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Trichorhinophalangeal syndrome, type I](https://omim.org/entry/190350){:target="_blank"}|
-|[TSC1](notebooks/TSC1/TSC1_TSC1_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Tuberous sclerosis-1](https://omim.org/entry/191100){:target="_blank"}|
-|[TSC2](notebooks/TSC2/TSC2_TSC2_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Tuberous sclerosis-2](https://omim.org/entry/613254){:target="_blank"}|
-|[TSPOAP1](notebooks/TSPOAP1/TSPOAP1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Dystonia 22, adult-onset](https://omim.org/entry/620456){:target="_blank"}|
-|[TUBB2B](notebooks/TUBB2B/TUBB2B_CDCBM7_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cortical dysplasia, complex, with other brain malformations 7](https://omim.org/entry/610031){:target="_blank"}|
-|[TYRP1](notebooks/TYRP1/TYRP1_OCA3_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Albinism, oculocutaneous, type III](https://omim.org/entry/203290){:target="_blank"}|
-|[U2AF2](notebooks/U2AF2){:target="_blank"}|49 Phenopackets;[Developmental delay, dysmorphic facies, and brain anomalies](https://omim.org/entry/620535){:target="_blank"}|
-|[UBAP2L](notebooks/UBAP2L/UBAP2L_NEDLBF_Jia_2022.ipynb){:target="_blank"}|12 Phenopackets;[Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies](https://omim.org/entry/620494){:target="_blank"}|
-|[UMOD](notebooks/UMOD/UMOD_ADTKD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Tubulointerstitial kidney disease, autosomal dominant, 1](https://omim.org/entry/162000){:target="_blank"}|
-|[USB1](notebooks/USB1/USB1_PN_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Poikiloderma with neutropenia](https://omim.org/entry/604173){:target="_blank"}|
-|[VCP](notebooks/VCP/VCP_IBMPFD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1](https://omim.org/entry/167320){:target="_blank"}|
-|[VPS13A](notebooks/VPS13A/VPS13A_CHAC_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Choreoacanthocytosis](https://omim.org/entry/200150){:target="_blank"}|
-|[VPS13B](notebooks/VPS13B/VPS13B_COH1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Cohen syndrome](https://omim.org/entry/216550){:target="_blank"}|
-|[VPS13C](notebooks/VPS13C/VPS13C_PARK23_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Parkinson disease 23, autosomal recessive, early onset](https://omim.org/entry/616840){:target="_blank"}|
-|[VRK1](notebooks/VRK1/VRK1_HMNR10_cohort.ipynb){:target="_blank"}|8 Phenopackets;[Neuronopathy, distal hereditary motor, autosomal recessive 10](https://omim.org/entry/620542){:target="_blank"}|
-|[WDR26](notebooks/WDR26/WDR26_SKDEAS_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Skraban-Deardorff syndrome](https://omim.org/entry/617616){:target="_blank"}|
-|[WFS1](notebooks/WFS1/WFS1_Wolfram_syndrome_1_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Wolfram syndrome 1](https://omim.org/entry/222300){:target="_blank"}|
-|[WNK1](notebooks/WNK1/WNK1_HSAN2A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Neuropathy, hereditary sensory and autonomic, type II](https://omim.org/entry/201300){:target="_blank"}|
-|[WNT1](notebooks/WNT1/WNT1_OI15_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Osteogenesis imperfecta, type XV](https://omim.org/entry/615220){:target="_blank"}|
-|[WWOX](notebooks/WWOX){:target="_blank"}|34 Phenopackets;[Spinocerebellar ataxia, autosomal recessive 12](https://omim.org/entry/614322){:target="_blank"}[Developmental and epileptic encephalopathy 28](https://omim.org/entry/616211){:target="_blank"}|
-|[ZIC2](notebooks/ZIC2/ZIC2_HPE5_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Holoprosencephaly 5](https://omim.org/entry/609637){:target="_blank"}|
-|[ZIC3](notebooks/ZIC3/ZIC3_HTX1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Heterotaxy, visceral, 1, X-linked](https://omim.org/entry/306955){:target="_blank"}|
-|[ZMYM3](notebooks/ZMYM3/ZMYM3_Summary.ipynb){:target="_blank"}|29 Phenopackets;[Intellectual developmental disorder, X-linked 112](https://omim.org/entry/301111){:target="_blank"}|
-|[ZSWIM6](notebooks/ZSWIM6){:target="_blank"}|16 Phenopackets;[Acromelic frontonasal dysostosis](https://omim.org/entry/603671){:target="_blank"}[Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features](https://omim.org/entry/617865){:target="_blank"}|
+|[11q_terminal_deletion](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/11q_terminal_deletion/grossfield_11q_2004.ipynb){:target="_blank"}|69 Phenopackets;[Jacobsen syndrome](https://omim.org/entry/147791){:target="_blank"}|
+|[AAGAB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/AAGAB/AAGAB_PPKP1A_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Keratoderma, palmoplantar, punctate type IA](https://omim.org/entry/148600){:target="_blank"}|
+|[ABCA4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ABCA4/ABCA4_RP19_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Retinitis pigmentosa 19](https://omim.org/entry/601718){:target="_blank"}|
+|[ABCB7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ABCB7/ABCB7_individuals.ipynb){:target="_blank"}|18 Phenopackets;[Anemia, sideroblastic, and spinocerebellar ataxia](https://omim.org/entry/301310){:target="_blank"}|
+|[ACBD6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ACBD6/ACBD6_NEDPM_individuals.ipynb){:target="_blank"}|45 Phenopackets;[Neurodevelopmental disorder with progressive movement abnormalities](https://omim.org/entry/620785){:target="_blank"}|
+|[ACP4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ACP4/ACP4_AI1J_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Amelogenesis imperfecta, type IJ](https://omim.org/entry/617297){:target="_blank"}|
+|[ACTA1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ACTA1/ACTA1_CMYP2A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Congenital myopathy 2A, typical, autosomal dominant](https://omim.org/entry/161800){:target="_blank"}|
+|[ACTB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ACTB/ACTB_AST_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Thrombocytopenia 8, with dysmorphic features and developmental delay](https://omim.org/entry/620475){:target="_blank"}|
+|[ACTN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ACTN1/ACTN1_BDPLT15_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Bleeding disorder, platelet-type, 15](https://omim.org/entry/615193){:target="_blank"}|
+|[ACVR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ACVR1/ACVR1_FOP_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Fibrodysplasia ossificans progressiva](https://omim.org/entry/135100){:target="_blank"}|
+|[ADA](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ADA/ADA_SCID_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Severe combined immunodeficiency due to ADA deficiency](https://omim.org/entry/102700){:target="_blank"}|
+|[ADA2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ADA2/ADA2_VAIHS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome](https://omim.org/entry/615688){:target="_blank"}|
+|[ADAMTS10](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ADAMTS10/ADAMTS10_WMS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Weill-Marchesani syndrome 1, recessive](https://omim.org/entry/277600){:target="_blank"}|
+|[ADAMTS15](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ADAMTS15/ADAMTS15_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Arthrogryposis, distal, type 12](https://omim.org/entry/620545){:target="_blank"}|
+|[ADAMTSL2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ADAMTSL2/ADAMTSL2_GPHYSD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Geleophysic dysplasia 1](https://omim.org/entry/231050){:target="_blank"}|
+|[ADGRG1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ADGRG1/ADGRG1_CDCBM14A_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)](https://omim.org/entry/606854){:target="_blank"}|
+|[ADRA2A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ADRA2A/ADRA2A_FPLD8_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Lipodystrophy, familial partial, type 8](https://omim.org/entry/620679){:target="_blank"}|
+|[AEBP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/AEBP1/AEBP1_EDSCLL2_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Ehlers-Danlos syndrome, classic-like, 2](https://omim.org/entry/618000){:target="_blank"}|
+|[AGRN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/AGRN/AGRN_CMS8_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects](https://omim.org/entry/615120){:target="_blank"}|
+|[AIRE](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/AIRE/AIRE_APS1_individuals.ipynb){:target="_blank"}|17 Phenopackets;[Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia](https://omim.org/entry/240300){:target="_blank"}|
+|[ALG9](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ALG9/ALG9_CDG1L_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Congenital disorder of glycosylation, type Il](https://omim.org/entry/608776){:target="_blank"}|
+|[AMN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/AMN/AMN_IGS2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Imerslund-Grasbeck syndrome 2](https://omim.org/entry/618882){:target="_blank"}|
+|[ANKH](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ANKH/ANKH_Summary.ipynb){:target="_blank"}|7 Phenopackets;[Craniometaphyseal dysplasia](https://omim.org/entry/123000){:target="_blank"}[Chondrocalcinosis 2](https://omim.org/entry/118600){:target="_blank"}|
+|[ANKRD11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ANKRD11/ANKRD11_KBGS_individuals.ipynb){:target="_blank"}|337 Phenopackets;[KBG syndrome](https://omim.org/entry/148050){:target="_blank"}|
+|[ANTXR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ANTXR1/ANTXR1_GAPOS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[GAPO syndrome](https://omim.org/entry/230740){:target="_blank"}|
+|[ANTXR2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ANTXR2/ANTXR2_HFS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyaline fibromatosis syndrome](https://omim.org/entry/228600){:target="_blank"}|
+|[APOLD1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/APOLD1/APOLD1_BDVAS_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bleeding disorder, vascular-type](https://omim.org/entry/620715){:target="_blank"}|
+|[APTX](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/APTX/APTX_EAOH_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia](https://omim.org/entry/208920){:target="_blank"}|
+|[ARHGEF18](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ARHGEF18/ARHGEF18_RP78_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Retinitis pigmentosa 78](https://omim.org/entry/617433){:target="_blank"}|
+|[ARMC12](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ARMC12/ARMC12_SPG90_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Spermatogenic failure 90](https://omim.org/entry/620744){:target="_blank"}|
+|[ARMC9](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ARMC9/ARMC9_JBTS30_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Joubert syndrome 30](https://omim.org/entry/617622){:target="_blank"}|
+|[ARPC5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ARPC5/ARPC5_IMD113_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Immunodeficiency 133 with autoimmunity and autoinflammation](https://omim.org/entry/620565){:target="_blank"}|
+|[ASAH1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ASAH1/ASAH1_SMAPME_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Spinal muscular atrophy with progressive myoclonic epilepsy](https://omim.org/entry/159950){:target="_blank"}|
+|[ASCC3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ASCC3/ASCC3_MRT81_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Intellectual developmental disorder, autosomal recessive 81](https://omim.org/entry/620700){:target="_blank"}|
+|[ASPM](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ASPM/ASPM_MCPH5_individuals.ipynb){:target="_blank"}|22 Phenopackets;[Microcephaly 5, primary, autosomal recessive](https://omim.org/entry/608716){:target="_blank"}|
+|[ASS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ASS1/ASS1_citrullinemia_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Citrullinemia](https://omim.org/entry/215700){:target="_blank"}|
+|[ATP13A2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ATP13A2/ATP13A2_Summary.ipynb){:target="_blank"}|44 Phenopackets;[Kufor-Rakeb syndrome](https://omim.org/entry/606693){:target="_blank"}[Spastic paraplegia 78, autosomal recessive](https://omim.org/entry/617225){:target="_blank"}|
+|[ATP6V0C](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ATP6V0C/ATP6V0C_Mattison_2023.ipynb){:target="_blank"}|24 Phenopackets;[Epilepsy, early-onset, 3, with or without developmental delay](https://omim.org/entry/620465){:target="_blank"}|
+|[ATP6V1A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ATP6V1A/ATP6V1A_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Cutis laxa, autosomal recessive, type IID](https://omim.org/entry/617403){:target="_blank"}|
+|[ATP6V1E1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ATP6V1E1/ATP6V1E1_ARCL2C_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Cutis laxa, autosomal recessive, type IIC](https://omim.org/entry/617402){:target="_blank"}|
+|[ATRX](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ATRX/ATRX_ATRX_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Alpha-thalassemia/impaired intellectual development syndrome](https://omim.org/entry/301040){:target="_blank"}|
+|[AXIN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/AXIN1/AXIN1_Craniometadiaphyseal_osteosclerosis_with_hip_dysplasia.ipynb){:target="_blank"}|7 Phenopackets;[Craniometadiaphyseal osteosclerosis with hip dysplasia](https://omim.org/entry/620558){:target="_blank"}|
+|[B3GALT6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/B3GALT6){:target="_blank"}|11 Phenopackets;[Ehlers-Danlos syndrome, spondylodysplastic type, 2](https://omim.org/entry/615349){:target="_blank"}[Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures](https://omim.org/entry/271640){:target="_blank"}|
+|[BBS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BBS1/BBS1_individuals.ipynb){:target="_blank"}|13 Phenopackets;[Bardet-Biedl syndrome 1](https://omim.org/entry/209900){:target="_blank"}|
+|[BBS2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BBS2/BBS2_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bardet-Biedl syndrome 2](https://omim.org/entry/615981){:target="_blank"}|
+|[BBS4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BBS4/BBS4_BBS4_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bardet-Biedl syndrome 4](https://omim.org/entry/615982){:target="_blank"}|
+|[BBS5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BBS5/BBS5_BBS5_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bardet-Biedl syndrome 5](https://omim.org/entry/615983){:target="_blank"}|
+|[BCKDHB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BCKDHB/BCKDHB_MSUD1B_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Maple syrup urine disease, type Ib](https://omim.org/entry/620698){:target="_blank"}|
+|[BCKDK](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BCKDK/BCKDK_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Branched-chain keto acid dehydrogenase kinase deficiency](https://omim.org/entry/614923){:target="_blank"}|
+|[BRAF](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BRAF/BRAF_CFC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cardiofaciocutaneous syndrome](https://omim.org/entry/115150){:target="_blank"}|
+|[BRD4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BRD4/BRD4_individuals.ipynb){:target="_blank"}|18 Phenopackets;[Cornelia de Lange syndrome 6](https://omim.org/entry/620568){:target="_blank"}|
+|[BRPF1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/BRPF1/BRPF1_IDDDFP_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Intellectual developmental disorder with dysmorphic facies and ptosis](https://omim.org/entry/617333){:target="_blank"}|
+|[CAD](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CAD/CAD_DEE50_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Developmental and epileptic encephalopathy 50	616457	AR	3	](https://omim.org/entry/616457){:target="_blank"}|
+|[CALM1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CALM1/CALM1_LQTS14_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Long QT syndrome 14](https://omim.org/entry/616247){:target="_blank"}|
+|[CALM2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CALM2/CALM2_LQTS15_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Long QT syndrome 15](https://omim.org/entry/616249){:target="_blank"}|
+|[CAPN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CAPN1/CAPN1_SPG76_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Spastic paraplegia 76, autosomal recessive](https://omim.org/entry/616907){:target="_blank"}|
+|[CAPRIN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CAPRIN1){:target="_blank"}|14 Phenopackets;[Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder](https://omim.org/entry/620782){:target="_blank"}[Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline](https://omim.org/entry/620636){:target="_blank"}|
+|[CARD9](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CARD9/CARD9_IMD103_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Immunodeficiency 103, susceptibility to fungal infection](https://omim.org/entry/212050){:target="_blank"}|
+|[CASP2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CASP2/CASP2_MRT80_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly](https://omim.org/entry/620653){:target="_blank"}|
+|[CAV3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CAV3/CAV3_MPDT_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Myopathy, distal, Tateyama type](https://omim.org/entry/614321){:target="_blank"}|
+|[CBLB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CBLB/CBLB_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Autoimmune disease, multisystem, infantile-onset, 3](https://omim.org/entry/620430){:target="_blank"}|
+|[CBS](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CBS/CBS_homocystinuria_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Homocystinuria, B6-responsive and nonresponsive types](https://omim.org/entry/236200){:target="_blank"}|
+|[CCNQ](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CCNQ/CCNQ_STAR_individuals.ipynb){:target="_blank"}|6 Phenopackets;[STAR syndrome](https://omim.org/entry/300707){:target="_blank"}|
+|[CDH3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CDH3/CDH3_HJMD_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Hypotrichosis, congenital, with juvenile macular dystrophy](https://omim.org/entry/601553){:target="_blank"}|
+|[CDK10](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CDK10/CDK10_ALKAS_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Al Kaissi syndrome](https://omim.org/entry/617694){:target="_blank"}|
+|[CDK5RAP2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CDK5RAP2/CDK5RAP2_MCPH3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Microcephaly 3, primary, autosomal recessive](https://omim.org/entry/604804){:target="_blank"}|
+|[CENPJ](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CENPJ/CENPJ_MCPH6.ipynb){:target="_blank"}|3 Phenopackets;[Microcephaly 6, primary, autosomal recessive](https://omim.org/entry/608393){:target="_blank"}|
+|[CEP295](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CEP295/CEP295_SCKL11_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Seckel syndrome 11](https://omim.org/entry/620767){:target="_blank"}|
+|[CFL2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CFL2/CFL2_NEM7_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Nemaline myopathy 7, autosomal recessive](https://omim.org/entry/610687){:target="_blank"}|
+|[CHD7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CHD7/CHD7_CHARGE_individuals.ipynb){:target="_blank"}|6 Phenopackets;[CHARGE syndrome](https://omim.org/entry/214800){:target="_blank"}|
+|[CHRDL1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CHRDL1/CHRDL1_MGC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Megalocornea 1, X-linked](https://omim.org/entry/309300){:target="_blank"}|
+|[CHST14](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CHST14/CHST14_EDSMC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ehlers-Danlos syndrome, musculocontractural type 1](https://omim.org/entry/601776){:target="_blank"}|
+|[CHSY1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CHSY1/CHSY1_TPBS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Temtamy preaxial brachydactyly syndrome](https://omim.org/entry/605282){:target="_blank"}|
+|[CLCN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CLCN1/CLCN1_MCD_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Myotonia congenita, dominant](https://omim.org/entry/160800){:target="_blank"}|
+|[CLDN16](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CLDN16/CLDN16_HOMG3_individuals.ipynb){:target="_blank"}|46 Phenopackets;[Hypomagnesemia 3, renal](https://omim.org/entry/248250){:target="_blank"}|
+|[CLXN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CLXN/CLXN_CILD53_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Ciliary dyskinesia, primary, 53](https://omim.org/entry/620642){:target="_blank"}|
+|[COG3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COG3/COG3_CDG2BB_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Congenital disorder of glycosylation, type IIbb](https://omim.org/entry/620546){:target="_blank"}|
+|[COG8](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COG8/COG8_CDG2H_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Congenital disorder of glycosylation, type IIh](https://omim.org/entry/611182){:target="_blank"}|
+|[COL11A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL11A1/COL11A1_STL2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Stickler syndrome, type II](https://omim.org/entry/604841){:target="_blank"}|
+|[COL2A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL2A1/COL2A1_STL1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Stickler syndrome, type I](https://omim.org/entry/108300){:target="_blank"}|
+|[COL3A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL3A1/COL3A1_Summary.ipynb){:target="_blank"}|41 Phenopackets;[Ehlers-Danlos syndrome, vascular type](https://omim.org/entry/130050){:target="_blank"}[Polymicrogyria with or without vascular-type EDS](https://omim.org/entry/618343){:target="_blank"}|
+|[COL5A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL5A1/COL5A1_EDSCL1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ehlers-Danlos syndrome, classic type, 1](https://omim.org/entry/130000){:target="_blank"}|
+|[COL5A2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL5A2/COL5A2_EDSCL2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ehlers-Danlos syndrome, classic type, 2](https://omim.org/entry/130010){:target="_blank"}|
+|[COL6A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL6A1/COL6A1_BTHLM1A_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Bethlem myopathy 1A](https://omim.org/entry/158810){:target="_blank"}|
+|[COL6A2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL6A2/COL6A2_UCMD1B_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Ullrich congenital muscular dystrophy 1B](https://omim.org/entry/620727){:target="_blank"}|
+|[COL6A3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COL6A3){:target="_blank"}|7 Phenopackets;[Ullrich congenital muscular dystrophy 1C](https://omim.org/entry/620728){:target="_blank"}[Bethlem myopathy 1C](https://omim.org/entry/620726){:target="_blank"}|
+|[COMP](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COMP/COMP_PSACH_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Pseudoachondroplasia](https://omim.org/entry/177170){:target="_blank"}|
+|[COQ4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COQ4/COQ4_SPAX10_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Spastic ataxia 10, autosomal recessive](https://omim.org/entry/620666){:target="_blank"}|
+|[COQ7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/COQ7/COQ7_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Neuronopathy, distal hereditary motor, autosomal recessive 9](https://omim.org/entry/620402){:target="_blank"}|
+|[CORIN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CORIN/CORIN_CMH30_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Cardiomyopathy, familial hypertrophic, 30, atrial](https://omim.org/entry/620734){:target="_blank"}|
+|[CRELD1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CRELD1){:target="_blank"}|21 Phenopackets;[Jeffries-Lakhani neurodevelopmental syndrome](https://omim.org/entry/620771){:target="_blank"}[Atrioventricular septal defect, partial, with heterotaxy syndrome](https://omim.org/entry/606217){:target="_blank"}|
+|[CRX](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CRX/CRX_CORD2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cone-rod retinal dystrophy-2](https://omim.org/entry/120970){:target="_blank"}|
+|[CSTF2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CSTF2/CSTF2_XLID113_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Intellectual developmental disorder, X-linked 113](https://omim.org/entry/301116){:target="_blank"}|
+|[CTCF](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CTCF/CTCF_MRD21_individuals.ipynb){:target="_blank"}|46 Phenopackets;[Intellectual developmental disorder, autosomal dominant 21](https://omim.org/entry/615502){:target="_blank"}|
+|[CTSA](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CTSA/CTSA_GSL_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Galactosialidosis](https://omim.org/entry/256540){:target="_blank"}|
+|[CWC27](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CWC27/CWC27_RPSKA_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Retinitis pigmentosa with or without skeletal anomalies](https://omim.org/entry/250410){:target="_blank"}|
+|[CYP27B1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/CYP27B1/CYP27B1_VDDR1A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Vitamin D-dependent rickets, type I](https://omim.org/entry/264700){:target="_blank"}|
+|[DAW1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DAW1/DAW1_CILD52_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Ciliary dyskinesia, primary, 52](https://omim.org/entry/620570){:target="_blank"}|
+|[DBR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DBR1/DBR1_XGIP_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Xerosis and growth failure with immune and pulmonary dysfunction syndrome](https://omim.org/entry/620510){:target="_blank"}|
+|[DBT](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DBT/DBT_MSUD2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Maple syrup urine disease, type II](https://omim.org/entry/620699){:target="_blank"}|
+|[DDX59](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DDX59/DDX59_OFD5_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Orofaciodigital syndrome V](https://omim.org/entry/174300){:target="_blank"}|
+|[DEPDC5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DEPDC5/DEPDC5_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Developmental and epileptic encephalopathy 111](https://omim.org/entry/620504){:target="_blank"}|
+|[DHCR24](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DHCR24/DHCR24_Desmosterolosis_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Desmosterolosis](https://omim.org/entry/602398){:target="_blank"}|
+|[DHCR7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DHCR7/DHCR7_SLOS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Smith-Lemli-Opitz syndrome](https://omim.org/entry/270400){:target="_blank"}|
+|[DLG5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DLG5/DLG5_YUVOB_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Yuksel-Vogel-Bauser syndrome](https://omim.org/entry/620703){:target="_blank"}|
+|[DLL3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DLL3/DLL3_SCDO1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Spondylocostal dysostosis 1, autosomal recessive](https://omim.org/entry/277300){:target="_blank"}|
+|[DNM2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DNM2/DNM2_CNM1_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Centronuclear myopathy 1](https://omim.org/entry/160150){:target="_blank"}|
+|[DOCK11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DOCK11/DOCK11_ADMIDX_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Autoinflammatory disease, multisystem, with immune dysregulation, X-linked](https://omim.org/entry/301109){:target="_blank"}|
+|[DOCK8](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DOCK8){:target="_blank"}|13 Phenopackets;[Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections](https://omim.org/entry/243700){:target="_blank"}|
+|[DRG1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DRG1/DRG1_TANALS_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Tan-Almurshedi syndrome](https://omim.org/entry/620641){:target="_blank"}|
+|[DYM](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DYM/DYM_DMC_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Dyggve-Melchior-Clausen disease](https://omim.org/entry/223800){:target="_blank"}|
+|[DYRK1A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/DYRK1A/DYRK1A_MRD7_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Intellectual developmental disorder, autosomal dominant 7](https://omim.org/entry/614104){:target="_blank"}|
+|[EDA](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EDA/EDA_XHED_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ectodermal dysplasia 1, hypohidrotic, X-linked](https://omim.org/entry/305100){:target="_blank"}|
+|[EFEMP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EFEMP1){:target="_blank"}|9 Phenopackets;[Cutis laxa, autosomal recessive, type ID](https://omim.org/entry/620780){:target="_blank"}[Glaucoma 1, open angle, H](https://omim.org/entry/611276){:target="_blank"}|
+|[EFNB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EFNB1/EFNB1_CFNS_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Craniofrontonasal dysplasia](https://omim.org/entry/304110){:target="_blank"}|
+|[EIF4A2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EIF4A2/EIF4A2_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures](https://omim.org/entry/620455){:target="_blank"}|
+|[EP300](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EP300/EP300_RST2_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Rubinstein-Taybi syndrome 2](https://omim.org/entry/613684){:target="_blank"}|
+|[EPB42](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EPB42/EPB42_SPH5_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Spherocytosis, type 5](https://omim.org/entry/612690){:target="_blank"}|
+|[EPG5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EPG5/EPG5_Vici_individuals.ipynb){:target="_blank"}|17 Phenopackets;[Vici syndrome](https://omim.org/entry/242840){:target="_blank"}|
+|[ERCC3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ERCC3/ERCC3_TTD2_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Trichothiodystrophy 2, photosensitive](https://omim.org/entry/616390){:target="_blank"}|
+|[ERCC6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ERCC6/ERCC6_CSB_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cockayne syndrome, type B](https://omim.org/entry/133540){:target="_blank"}|
+|[ERCC8](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ERCC8/ERCC8_CSA_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Cockayne syndrome, type A](https://omim.org/entry/216400){:target="_blank"}|
+|[ERF](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ERF/ERF_CHYTS_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Chitayat syndrome](https://omim.org/entry/617180){:target="_blank"}|
+|[ERI1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ERI1){:target="_blank"}|10 Phenopackets;[Spondyloepimetaphyseal dysplasia, Guo-Campeau type](https://omim.org/entry/620663){:target="_blank"}[Hoxha-Aliu syndrome](https://omim.org/entry/620662){:target="_blank"}|
+|[ESAM](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ESAM/ESAM_Lecca_2023.ipynb){:target="_blank"}|14 Phenopackets;[Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity](https://omim.org/entry/620371){:target="_blank"}|
+|[EXTL3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EXTL3/EXTL3_ISDNA_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Immunoskeletal dysplasia with neurodevelopmental abnormalitie](https://omim.org/entry/617425){:target="_blank"}|
+|[EZH1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/EZH1/GraciaDiaz_EZH1_PMID_37433783.ipynb){:target="_blank"}|19 Phenopackets;[EZH1-related neurodevelopmental disorder](https://omim.org/entry/601674){:target="_blank"}|
+|[FANCC](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FANCC/FANCC_Fanconi_Anemia.ipynb){:target="_blank"}|4 Phenopackets;[Fanconi anemia, complementation group C](https://omim.org/entry/227645){:target="_blank"}|
+|[FANCI](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FANCI/FANCI_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Fanconi anemia, complementation group I](https://omim.org/entry/609053){:target="_blank"}|
+|[FBLN5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBLN5/FBLN5_ARCL1A_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Cutis laxa, autosomal recessive, type IA](https://omim.org/entry/219100){:target="_blank"}|
+|[FBN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBN1/Summary_FBN1.ipynb){:target="_blank"}|151 Phenopackets;[Marfan syndrome](https://omim.org/entry/154700){:target="_blank"}[Ectopia lentis, familial](https://omim.org/entry/129600){:target="_blank"}[Marfan lipodystrophy syndrome](https://omim.org/entry/616914){:target="_blank"}[Acromicric dysplasia](https://omim.org/entry/102370){:target="_blank"}[Geleophysic dysplasia 2](https://omim.org/entry/614185){:target="_blank"}[Stiff skin syndrome](https://omim.org/entry/184900){:target="_blank"}|
+|[FBN2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBN2/FBN2_CCA_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Contractural arachnodactyly, congenital](https://omim.org/entry/121050){:target="_blank"}|
+|[FBXL4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBXL4/FBXL4-curation.ipynb){:target="_blank"}|94 Phenopackets;[Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)](https://omim.org/entry/615471){:target="_blank"}|
+|[FBXO11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBXO11/FBXO11_IDDFBA_individuals.ipynb){:target="_blank"}|20 Phenopackets;[Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities](https://omim.org/entry/618089){:target="_blank"}|
+|[FBXO7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FBXO7/FBXO7_PARK15_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Parkinson disease 15, autosomal recessive](https://omim.org/entry/260300){:target="_blank"}|
+|[FERMT3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FERMT3/FERMT3_LAD3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Leukocyte adhesion deficiency, type III](https://omim.org/entry/612840){:target="_blank"}|
+|[FGD1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FGD1/FGD1_AAS_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Aarskog-Scott syndrome](https://omim.org/entry/305400){:target="_blank"}|
+|[FGFR2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FGFR2/FGFR2_Apert_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Apert syndrome](https://omim.org/entry/101200){:target="_blank"}|
+|[FGFR3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FGFR3){:target="_blank"}|2 Phenopackets;[Muenke syndrome](https://omim.org/entry/602849){:target="_blank"}[Hypochondroplasia](https://omim.org/entry/146000){:target="_blank"}|
+|[FKBP10](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FKBP10/FKBP10_OI11_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Osteogenesis imperfecta, type XI](https://omim.org/entry/610968){:target="_blank"}|
+|[FLNB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FLNB/FLNB_Larsen_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Larsen syndrome](https://omim.org/entry/150250){:target="_blank"}|
+|[FOSL2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FOSL2/FOSL2_ACED_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Aplasia cutis-enamel dysplasia syndrome](https://omim.org/entry/620789){:target="_blank"}|
+|[FOXE1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FOXE1/FOXE1_BAMLAZ_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Bamforth-Lazarus syndrome](https://omim.org/entry/241850){:target="_blank"}|
+|[FOXG1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FOXG1/FOXG1_Rett_variant_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Rett syndrome, congenital variant](https://omim.org/entry/613454){:target="_blank"}|
+|[FTH1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FTH1/FTH1_NBIA9_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Neurodegeneration with brain iron accumulation 9](https://omim.org/entry/620669){:target="_blank"}|
+|[FYB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FYB1/FYB1_THC3_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Thrombocytopenia 3](https://omim.org/entry/273900){:target="_blank"}|
+|[FZD5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/FZD5/FZD5_MCOPCB11_individuals.ipynb){:target="_blank"}|28 Phenopackets;[Microphthalmia/coloboma 11](https://omim.org/entry/620731){:target="_blank"}|
+|[GABBR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GABBR1/GABBR1_NEDLC_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Neurodevelopmental disorder with language delay and variable cognitive abnormalities](https://omim.org/entry/620502){:target="_blank"}|
+|[GALC](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GALC/GALC_KRD_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Krabbe disease](https://omim.org/entry/245200){:target="_blank"}|
+|[GALT](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GALT/GALT_GALAC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Galactosemia](https://omim.org/entry/230400){:target="_blank"}|
+|[GCDH](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GCDH/GCDH_GA1.ipynb){:target="_blank"}|7 Phenopackets;[Glutaricaciduria, type I](https://omim.org/entry/231670){:target="_blank"}|
+|[GCSH](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GCSH/GCSH_Summary.ipynb){:target="_blank"}|9 Phenopackets;[Multiple mitochondrial dysfunctions syndrome 7](https://omim.org/entry/620423){:target="_blank"}|
+|[GIPC3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GIPC3/GIPC3_DFNB15_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Deafness, autosomal recessive 15](https://omim.org/entry/601869){:target="_blank"}|
+|[GLB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GLB1/GLB1_GM1G3_individuals.ipynb){:target="_blank"}|2 Phenopackets;[GM1-gangliosidosis, type III](https://omim.org/entry/230650){:target="_blank"}|
+|[GLI3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GLI3){:target="_blank"}|82 Phenopackets;[Pallister-Hall syndrome](https://omim.org/entry/146510){:target="_blank"}[Greig cephalopolysyndactyly syndrome](https://omim.org/entry/175700){:target="_blank"}[Polydactyly, postaxial, types A1 and B](https://omim.org/entry/174200){:target="_blank"}|
+|[GLRA1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GLRA1/GLRA1_HKPX1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyperekplexia 1](https://omim.org/entry/149400){:target="_blank"}|
+|[GLUL](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GLUL/GLUL_DEE116_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Developmental and epileptic encephalopathy 116](https://omim.org/entry/620806){:target="_blank"}|
+|[GNAO1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GNAO1/GNAO1_DEE17_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Developmental and epileptic encephalopathy 17 ](https://omim.org/entry/615473){:target="_blank"}|
+|[GNB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GNB1/GNB1_MRD42_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Intellectual developmental disorder, autosomal dominant 42](https://omim.org/entry/616973){:target="_blank"}|
+|[GNPTAB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GNPTAB/GNPTAB_ML3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Mucolipidosis III alpha/beta](https://omim.org/entry/252600){:target="_blank"}|
+|[GPSM2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GPSM2/GPSM2_CMCS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Chudley-McCullough syndrome](https://omim.org/entry/604213){:target="_blank"}|
+|[GRHPR](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GRHPR/GRHPR_HP2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyperoxaluria, primary, type II](https://omim.org/entry/260000){:target="_blank"}|
+|[GSN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GSN/GSN_AMYLD4_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Amyloidosis, Finnish type](https://omim.org/entry/105120){:target="_blank"}|
+|[GTF2H5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/GTF2H5/GTF2H5_TTD3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Trichothiodystrophy 3, photosensitive](https://omim.org/entry/616395){:target="_blank"}|
+|[HCN4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HCN4/HCN4_SSS2_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Sick sinus syndrome 2](https://omim.org/entry/163800){:target="_blank"}|
+|[HMBS](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HMBS){:target="_blank"}|7 Phenopackets;[Encephalopathy, porphyria-related](https://omim.org/entry/620704){:target="_blank"}[Leukoencephalopathy, porphyria-related](https://omim.org/entry/620711){:target="_blank"}|
+|[HMGCR](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HMGCR/HMGCR_summary.ipynb){:target="_blank"}|15 Phenopackets;[Muscular dystrophy, limb-girdle, autosomal recessive 28](https://omim.org/entry/620375){:target="_blank"}|
+|[HMGCS2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HMGCS2/HMGCS2_individuals.ipynb){:target="_blank"}|29 Phenopackets;[HMG-CoA synthase-2 deficiency](https://omim.org/entry/605911){:target="_blank"}|
+|[HNF1B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HNF1B/HNF1B_RCAD_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Renal cysts and diabetes syndrome](https://omim.org/entry/137920){:target="_blank"}|
+|[HNRNPC](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HNRNPC/HNRNPC_MRD74_individuals.ipynb){:target="_blank"}|13 Phenopackets;[Intellectual developmental disorder, autosomal dominant 74](https://omim.org/entry/620688){:target="_blank"}|
+|[HNRPA2B1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HNRPA2B1/HNRPA2B1_KIM_2022.ipynb){:target="_blank"}|11 Phenopackets;[Oculopharyngeal muscular dystrophy 2](https://omim.org/entry/620460){:target="_blank"}|
+|[HOXC13](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/HOXC13/HOXC13_ECTD9_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Ectodermal dysplasia 9, hair/nail type](https://omim.org/entry/614931){:target="_blank"}|
+|[ICOSLG](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ICOSLG/ICOSLG_IMD119_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Immunodeficiency 119](https://omim.org/entry/620825){:target="_blank"}|
+|[INPPL1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/INPPL1/INPPL1_OPSMD_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Opsismodysplasia](https://omim.org/entry/258480){:target="_blank"}|
+|[INSR](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/INSR/INSR_DS_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Donohue syndrome](https://omim.org/entry/246200){:target="_blank"}|
+|[INTS11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/INTS11/INTS11_Tepe_2023.ipynb){:target="_blank"}|15 Phenopackets;[Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities](https://omim.org/entry/620428){:target="_blank"}|
+|[IRF1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/IRF1/IRF1_IMD117_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Immunodeficiency 117, mycobacteriosis, autosomal recessive](https://omim.org/entry/620668){:target="_blank"}|
+|[ISCA2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ISCA2/ISCA2_cohort.ipynb){:target="_blank"}|16 Phenopackets;[Multiple mitochondrial dysfunctions syndrome 4](https://omim.org/entry/616370){:target="_blank"}|
+|[ITPR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ITPR1){:target="_blank"}|80 Phenopackets;[Gillespie syndrome](https://omim.org/entry/206700){:target="_blank"}[Spinocerebellar ataxia 29, congenital nonprogressive](https://omim.org/entry/117360){:target="_blank"}[Spinocerebellar ataxia 15](https://omim.org/entry/606658){:target="_blank"}|
+|[JAG1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/JAG1/JAG1_ALGS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Alagille syndrome 1](https://omim.org/entry/118450){:target="_blank"}|
+|[KCNH5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KCNH5/KCNH5_individuals.ipynb){:target="_blank"}|22 Phenopackets;[Developmental and epileptic encephalopathy 112](https://omim.org/entry/620537){:target="_blank"}|
+|[KCNJ2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KCNJ2/KCNJ2_SQT3_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Short QT syndrome 3](https://omim.org/entry/609622){:target="_blank"}|
+|[KCNQ1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KCNQ1/KCNQ1_JLNS1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Jervell and Lange-Nielsen syndrome](https://omim.org/entry/220400){:target="_blank"}|
+|[KCNT1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KCNT1/KCNT1_DEE14_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Developmental and epileptic encephalopathy 14](https://omim.org/entry/614959){:target="_blank"}|
+|[KDM5A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KDM5A/KDM5A_NEDEHC_individuals.ipynb){:target="_blank"}|9 Phenopackets;[El Hayek-Chahrour neurodevelopmental syndrome](https://omim.org/entry/620820){:target="_blank"}|
+|[KDM6A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KDM6A/KDM6A_KABUK2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Kabuki syndrome 2](https://omim.org/entry/300867){:target="_blank"}|
+|[KDM6B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KDM6B/KDM6B_PMID_37196654.ipynb){:target="_blank"}|73 Phenopackets;[Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities](https://omim.org/entry/618505){:target="_blank"}|
+|[KIF5A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KIF5A/KIF5A_SPG10_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Spastic paraplegia 10, autosomal dominant](https://omim.org/entry/604187){:target="_blank"}|
+|[KMT2D](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KMT2D/KMT2D_KABUK1_individuals.ipynb){:target="_blank"}|65 Phenopackets;[Kabuki Syndrome 1](https://omim.org/entry/147920){:target="_blank"}|
+|[KRAS](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KRAS){:target="_blank"}|8 Phenopackets;[Noonan syndrome 3](https://omim.org/entry/609942){:target="_blank"}[Cardiofaciocutaneous syndrome 2](https://omim.org/entry/615278){:target="_blank"}|
+|[KRT10](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KRT10/KRT10_EHK2B_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Epidermolytic hyperkeratosis 2B, autosomal recessive](https://omim.org/entry/620707){:target="_blank"}|
+|[KRT9](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/KRT9/KRT9_EPPK1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Palmoplantar keratoderma, epidermolytic, 1](https://omim.org/entry/144200){:target="_blank"}|
+|[LAMB2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LAMB2/LAMB2_NPHS5_individuals.ipynb){:target="_blank"}|26 Phenopackets;[Nephrotic syndrome, type 5, with or without ocular abnormalities](https://omim.org/entry/614199){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 10](https://omim.org/entry/614204){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 7](https://omim.org/entry/614201){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 8](https://omim.org/entry/614202){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 9](https://omim.org/entry/614203){:target="_blank"}[NEPHROTIC SYNDROME, TYPE 6](https://omim.org/entry/614200){:target="_blank"}|
+|[LAMB3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LAMB3/LAMB3_AI1A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Amelogenesis imperfecta, type IA](https://omim.org/entry/104530){:target="_blank"}|
+|[LIPT2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LIPT2/LIPT2_NELABA_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities](https://omim.org/entry/617668){:target="_blank"}|
+|[LITAF](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LITAF/LITAF_CMT1C_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Charcot-Marie-Tooth disease, type 1C](https://omim.org/entry/601098){:target="_blank"}|
+|[LMNA](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LMNA/LMNA_Summary.ipynb){:target="_blank"}|127 Phenopackets;[Emery-Dreifuss muscular dystrophy 2, autosomal dominant](https://omim.org/entry/181350){:target="_blank"}[Cardiomyopathy, dilated, 1A](https://omim.org/entry/115200){:target="_blank"}[Lipodystrophy, familial partial, type 2](https://omim.org/entry/151660){:target="_blank"}[LMNA-related congenital muscular dystrophy](https://omim.org/entry/613205){:target="_blank"}[Hutchinson-Gilford progeria](https://omim.org/entry/176670){:target="_blank"}|
+|[LMX1B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LMX1B/LMX1B_NPS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Nail-patella syndrome](https://omim.org/entry/161200){:target="_blank"}|
+|[LONP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LONP1/LONP1_CODAS_individuals.ipynb){:target="_blank"}|8 Phenopackets;[CODAS syndrome](https://omim.org/entry/600373){:target="_blank"}|
+|[LYN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LYN/LYN_Summary.ipynb){:target="_blank"}|4 Phenopackets;[Autoinflammatory disease, systemic, with vasculitis](https://omim.org/entry/620376){:target="_blank"}|
+|[LYST](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LYST/LYST_CHS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Chediak-Higashi syndrome](https://omim.org/entry/214500){:target="_blank"}|
+|[LZTR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/LZTR1/LZTR1_NS2_individuals.ipynb){:target="_blank"}|20 Phenopackets;[Noonan syndrome 2](https://omim.org/entry/605275){:target="_blank"}|
+|[MAF](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MAF/MAF_AYGRP_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ayme-Gripp syndrome](https://omim.org/entry/601088){:target="_blank"}|
+|[MANF](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MANF/MANF_DDDS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Diabetes, deafness, developmental delay, and short stature syndrome](https://omim.org/entry/620651){:target="_blank"}|
+|[MAP3K14](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MAP3K14/MAP3K14_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Immunodeficiency 112](https://omim.org/entry/620449){:target="_blank"}|
+|[MAPK8IP3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MAPK8IP3/MAPK8IP3_summary.ipynb){:target="_blank"}|20 Phenopackets;[Neurodevelopmental disorder with or without variable brain abnormalities](https://omim.org/entry/618443){:target="_blank"}|
+|[MAX](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MAX/MAX_PDMCS_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Polydactyly-macrocephaly syndrome](https://omim.org/entry/620712){:target="_blank"}|
+|[MCOLN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MCOLN1/MCOLN1_ML4_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Mucolipidosis IV](https://omim.org/entry/252650){:target="_blank"}|
+|[MCTS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MCTS1/MCTS1_IMD118_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Immunodeficiency 118, mycobacteriosis](https://omim.org/entry/301115){:target="_blank"}|
+|[MECR](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MECR/MECR_OPA16_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Optic atrophy 16](https://omim.org/entry/620629){:target="_blank"}|
+|[MED23](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MED23/MED23_MRT18_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy](https://omim.org/entry/614249){:target="_blank"}|
+|[MEIOB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MEIOB/MEIOB_POF23_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Premature ovarian failure 23](https://omim.org/entry/620686){:target="_blank"}|
+|[MEN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MEN1/MEN1_MEN_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Multiple endocrine neoplasia 1](https://omim.org/entry/131100){:target="_blank"}|
+|[MFN2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MFN2/MFN2_CMT2A2A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Charcot-Marie-Tooth disease, axonal, type 2A2A](https://omim.org/entry/609260){:target="_blank"}|
+|[MITF](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MITF/MITF_TADS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Tietz albinism-deafness syndrome](https://omim.org/entry/103500){:target="_blank"}|
+|[MPL](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MPL/MPL_THCYT2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Thrombocythemia 2](https://omim.org/entry/601977){:target="_blank"}|
+|[MPV17](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MPV17/MPV17_curation.ipynb){:target="_blank"}|50 Phenopackets;[Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)](https://omim.org/entry/256810){:target="_blank"}|
+|[MRAS](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MRAS/MRAS_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Noonan syndrome-11](https://omim.org/entry/618499){:target="_blank"}|
+|[MRPL39](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MRPL39/MRPL39_COXPD59_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Combined oxidative phosphorylation deficiency 59](https://omim.org/entry/620646){:target="_blank"}|
+|[MTOR](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MTOR/MTOR_SKS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Smith-Kingsmore syndrome](https://omim.org/entry/616638){:target="_blank"}|
+|[MUSK](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MUSK/MUSK_CMS9_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency](https://omim.org/entry/616325){:target="_blank"}|
+|[MYCN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MYCN/MYCN_MPAPA_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Megalencephaly-polydactyly syndrome](https://omim.org/entry/620748){:target="_blank"}|
+|[MYH3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MYH3/MYH3_DA2A_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Arthrogryposis, distal, type 2A (Freeman-Sheldon)](https://omim.org/entry/193700){:target="_blank"}|
+|[MYOT](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MYOT/MYOT_MFM3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Myopathy, myofibrillar, 3](https://omim.org/entry/609200){:target="_blank"}|
+|[MYT1L](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/MYT1L/MYT1L_MRD39_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Intellectual developmental disorder, autosomal dominant 39](https://omim.org/entry/616521){:target="_blank"}|
+|[NAA60](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NAA60/NAA60_IBGC9_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Basal ganglia calcification, idiopathic, 9, autosomal recessive](https://omim.org/entry/620786){:target="_blank"}|
+|[NCF2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NCF2/NCF2_CGD2_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Chronic granulomatous disease 2, autosomal recessive](https://omim.org/entry/233710){:target="_blank"}|
+|[NF1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NF1/NF1_NF1_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Neurofibromatosis, type 1](https://omim.org/entry/162200){:target="_blank"}|
+|[NHLRC1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NHLRC1/NHLRC1_MELF2_individuals.ipynb){:target="_blank"}|22 Phenopackets;[Myoclonic epilepsy of Lafora 2](https://omim.org/entry/620681){:target="_blank"}|
+|[NHS](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NHS/NHS_NHS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Nance-Horan syndrome](https://omim.org/entry/302350){:target="_blank"}|
+|[NIPBL](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NIPBL/NIPBL_CDLS1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Cornelia de Lange syndrome 1](https://omim.org/entry/122470){:target="_blank"}|
+|[NKX6-2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NKX6-2/NKX6-2_SPAX8_individuals.ipynb){:target="_blank"}|33 Phenopackets;[Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy](https://omim.org/entry/617560){:target="_blank"}|
+|[NLRP3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NLRP3/NLRP3_MWS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Muckle-Wells syndrome](https://omim.org/entry/191900){:target="_blank"}|
+|[NOTCH2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NOTCH2/NOTCH2_HJCYS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hajdu-Cheney syndrome](https://omim.org/entry/102500){:target="_blank"}|
+|[NPC1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NPC1/NPC1_NPC1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Niemann-Pick disease, type C1](https://omim.org/entry/257220){:target="_blank"}|
+|[NPHS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NPHS1/NPHS1_NPHS1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Nephrotic syndrome, type 1](https://omim.org/entry/256300){:target="_blank"}|
+|[NPR2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NPR2/NPR2_AMD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Acromesomelic dysplasia 1, Maroteaux type](https://omim.org/entry/602875){:target="_blank"}|
+|[NRAS](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NRAS/NRAS_NS6_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Noonan syndrome 6](https://omim.org/entry/613224){:target="_blank"}|
+|[NRL](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NRL/NRL_RP27_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Retinitis pigmentosa 27](https://omim.org/entry/613750){:target="_blank"}|
+|[NSUN2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NSUN2/NSUN2_MRT5_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Intellectual developmental disorder, autosomal recessive 5](https://omim.org/entry/611091){:target="_blank"}|
+|[NSUN6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NSUN6/NSUN6_MRT82_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Intellectual developmental disorder, autosomal recessive 82](https://omim.org/entry/620779){:target="_blank"}|
+|[NT5C2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NT5C2/NT5C2_SPG45_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Spastic paraplegia 45, autosomal recessive](https://omim.org/entry/613162){:target="_blank"}|
+|[NUP54](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/NUP54/NUP54_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Dystonia 37, early-onset, with striatal lesions](https://omim.org/entry/620427){:target="_blank"}|
+|[OCA2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/OCA2/OCA2_OCA2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Albinism, oculocutaneous, type II](https://omim.org/entry/203200){:target="_blank"}|
+|[OFD1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/OFD1/OFD1_Summary.ipynb){:target="_blank"}|19 Phenopackets;[Joubert syndrome 10](https://omim.org/entry/300804){:target="_blank"}[Orofaciodigital syndrome I](https://omim.org/entry/311200){:target="_blank"}[Simpson-Golabi-Behmel syndrome, type 2](https://omim.org/entry/300209){:target="_blank"}|
+|[OTUD6B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/OTUD6B/OTUD6B_IDDFSDA_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies](https://omim.org/entry/617452){:target="_blank"}|
+|[OTUD7A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/OTUD7A/OTUD7A_NEDHS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Neurodevelopmental disorder with hypotonia and seizures](https://omim.org/entry/620790){:target="_blank"}|
+|[PANK2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PANK2/PANK2_NBIA1_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Neurodegeneration with brain iron accumulation 1](https://omim.org/entry/234200){:target="_blank"}|
+|[PARK7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PARK7/PARK7_PARK7_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Parkinson disease 7, autosomal recessive early-onset](https://omim.org/entry/606324){:target="_blank"}|
+|[PAX3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PAX3/PAX3_WS3_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Waardenburg syndrome, type 3](https://omim.org/entry/148820){:target="_blank"}|
+|[PAX4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PAX4/PAX4_MODY9_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Maturity-onset diabetes of the young, type IX](https://omim.org/entry/612225){:target="_blank"}|
+|[PCDH19](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PCDH19/PCDH19_DEE9_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Developmental and epileptic encephalopathy 9](https://omim.org/entry/300088){:target="_blank"}|
+|[PCYT1A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PCYT1A/PCYT1A_CGL5_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Lipodystrophy, congenital generalized, type 5](https://omim.org/entry/620680){:target="_blank"}|
+|[PI4K2A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PI4K2A/PI4K2A_NEDMSB_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities](https://omim.org/entry/620732){:target="_blank"}|
+|[PIEZO2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PIEZO2/PIEZO2_DAIPT_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Arthrogryposis, distal, with impaired proprioception and touch](https://omim.org/entry/617146){:target="_blank"}|
+|[PKHD1L1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PKHD1L1/PKHD1L1_DFNB124_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Deafness, autosomal recessive 124](https://omim.org/entry/620794){:target="_blank"}|
+|[PLAA](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PLAA/PLAA_NDMSBA_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies](https://omim.org/entry/617527){:target="_blank"}|
+|[PLAAT3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PLAAT3/PLAAT3_FPLD9_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Lipodystrophy, familial partial, type 9](https://omim.org/entry/620683){:target="_blank"}|
+|[PLCB4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PLCB4/PLCB4_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Auriculocondylar syndrome 2B](https://omim.org/entry/620458){:target="_blank"}|
+|[PMP22](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PMP22/PMP22_HNPP_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Neuropathy, recurrent, with pressure palsies](https://omim.org/entry/162500){:target="_blank"}|
+|[PNPLA6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PNPLA6){:target="_blank"}|17 Phenopackets;[Boucher-Neuhauser syndrome](https://omim.org/entry/215470){:target="_blank"}[Oliver-McFarlane syndrome](https://omim.org/entry/275400){:target="_blank"}|
+|[POGLUT1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/POGLUT1/POGLUT1_LGMDR21_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Muscular dystrophy, limb-girdle, autosomal recessive 21](https://omim.org/entry/617232){:target="_blank"}|
+|[POLR1A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/POLR1A){:target="_blank"}|22 Phenopackets;[Leukodystrophy, hypomyelinating, 27](https://omim.org/entry/620675){:target="_blank"}[Acrofacial dysostosis, Cincinnati type](https://omim.org/entry/616462){:target="_blank"}|
+|[POLR1D](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/POLR1D/POLR1D_TCS2_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Treacher Collins syndrome 2](https://omim.org/entry/613717){:target="_blank"}|
+|[POMGNT1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/POMGNT1/POMGNT1_RP76_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Retinitis pigmentosa 76](https://omim.org/entry/617123){:target="_blank"}|
+|[POT1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/POT1/Kelich_2022_POT1.ipynb){:target="_blank"}|4 Phenopackets;[Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8](https://omim.org/entry/620367){:target="_blank"}|
+|[PPIB](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PPIB/PPIB_OI9_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Osteogenesis imperfecta, type IX](https://omim.org/entry/259440){:target="_blank"}|
+|[PPP1R13L](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PPP1R13L/PPP1R13L_individuals.ipynb){:target="_blank"}|14 Phenopackets;[Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities](https://omim.org/entry/620519){:target="_blank"}|
+|[PPP2R1A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PPP2R1A/Qian_PPP2R1A.ipynb){:target="_blank"}|60 Phenopackets;[Houge-Janssen syndrome 2](https://omim.org/entry/616362){:target="_blank"}|
+|[PRDM10](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PRDM10/PRDM10_vandebeek_2023.ipynb){:target="_blank"}|7 Phenopackets;[Birt-Hogg-Dube syndrome 2](https://omim.org/entry/620459){:target="_blank"}|
+|[PREPL](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PREPL/PREPL_CMS22_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Myasthenic syndrome, congenital, 22](https://omim.org/entry/616224){:target="_blank"}|
+|[PRF1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PRF1/PRF1_FHL2_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Hemophagocytic lymphohistiocytosis, familial, 2](https://omim.org/entry/603553){:target="_blank"}|
+|[PRPF3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PRPF3/PRPF3_RP18_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Retinitis pigmentosa 18](https://omim.org/entry/601414){:target="_blank"}|
+|[PRPF31](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PRPF31/PRPF31_RP11_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Retinitis pigmentosa 11](https://omim.org/entry/600138){:target="_blank"}|
+|[PRTHD1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PRTHD1/PRTHD1_NEDPBA_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities](https://omim.org/entry/620747){:target="_blank"}|
+|[PSEN2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PSEN2/PSEN2_AD2_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Alzheimer disease-4](https://omim.org/entry/606889){:target="_blank"}|
+|[PSMB9](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PSMB9/PSMB9_PRAAS6_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Proteasome-associated autoinflammatory syndrome 6](https://omim.org/entry/620796){:target="_blank"}|
+|[PSMD12](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PSMD12/PSMD12_STISS_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Stankiewicz-Isidor syndrome](https://omim.org/entry/617516){:target="_blank"}|
+|[PTPN11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PTPN11/PTPN11_Summary.ipynb){:target="_blank"}|70 Phenopackets;[LEOPARD syndrome 1](https://omim.org/entry/151100){:target="_blank"}[Metachondromatosis](https://omim.org/entry/156250){:target="_blank"}[Noonan syndrome 1](https://omim.org/entry/163950){:target="_blank"}|
+|[PUM1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PUM1/PUM1_NEDMSF_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism](https://omim.org/entry/620719){:target="_blank"}|
+|[PYCR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PYCR1/PYCR1_ARCL2B_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Cutis laxa, autosomal recessive, type IIB](https://omim.org/entry/612940){:target="_blank"}|
+|[PYGL](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/PYGL/PYGL_GSD6_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Glycogen storage disease VI](https://omim.org/entry/232700){:target="_blank"}|
+|[RAB34](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RAB34/RAB34_OFD20_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Orofaciodigital syndrome XX](https://omim.org/entry/620718){:target="_blank"}|
+|[RAI1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RAI1/RAI1_SMS_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Smith-Magenis syndrome](https://omim.org/entry/182290){:target="_blank"}|
+|[RAP1B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RAP1B/RAP1B_THC11_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies](https://omim.org/entry/620654){:target="_blank"}|
+|[RAP1GDS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RAP1GDS1/RAP1GDS1_AFDL_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Alfadhel syndrome](https://omim.org/entry/620655){:target="_blank"}|
+|[RECQL2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RECQL2/RECQL2_WRN_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Werner syndrome](https://omim.org/entry/277700){:target="_blank"}|
+|[RERE](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RERE/RERE_NEDBEH_individuals.ipynb){:target="_blank"}|19 Phenopackets;[Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart](https://omim.org/entry/616975){:target="_blank"}|
+|[RET](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RET/RET_MEN2A_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Multiple endocrine neoplasia IIA](https://omim.org/entry/171400){:target="_blank"}|
+|[RETREG1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RETREG1/RETREG1_HSAN2B_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Neuropathy, hereditary sensory and autonomic, type IIB](https://omim.org/entry/613115){:target="_blank"}|
+|[RGS9](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RGS9/RGS9_PERRS1_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Prolonged electroretinal response suppression 1](https://omim.org/entry/608415){:target="_blank"}|
+|[RGS9BP](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RGS9BP/RGS9BP_PERRS2_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Prolonged electroretinal response suppression 2](https://omim.org/entry/620344){:target="_blank"}|
+|[RNF31](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RNF31/RNF31_IMD115_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Immunodeficiency 115 with autoinflammation](https://omim.org/entry/620632){:target="_blank"}|
+|[ROR2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ROR2/ROR2_Robinow_syndrome.ipynb){:target="_blank"}|25 Phenopackets;[Robinow syndrome, autosomal recessive](https://omim.org/entry/268310){:target="_blank"}|
+|[RPGRIP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RPGRIP1/RPGRIP1_Beryozkin_2021.ipynb){:target="_blank"}|229 Phenopackets;[Leber congenital amaurosis 6](https://omim.org/entry/613826){:target="_blank"}[Cone-rod dystrophy 13](https://omim.org/entry/608194){:target="_blank"}|
+|[RPS19](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RPS19/RPS19_DBA1_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Diamond-Blackfan anemia 1](https://omim.org/entry/105650){:target="_blank"}|
+|[RRM1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RRM1/RRM1_PEOB6_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6](https://omim.org/entry/620647){:target="_blank"}|
+|[RTTN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RTTN/RTTN_MSSP_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Microcephaly, short stature, and polymicrogyria with seizures](https://omim.org/entry/614833){:target="_blank"}|
+|[RUNX2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RUNX2/RUNX2_CLCD1_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Cleidocranial dysplasia](https://omim.org/entry/119600){:target="_blank"}|
+|[RYR2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/RYR2/RYR2_CPVT1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Ventricular tachycardia, catecholaminergic polymorphic, 1](https://omim.org/entry/604772){:target="_blank"}|
+|[SALL1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SALL1/SALL1_TBS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Townes-Brocks syndrome 1](https://omim.org/entry/107480){:target="_blank"}|
+|[SAMD7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SAMD7/SAMD7_MDCD_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Macular dystrophy with or without cone dysfunction](https://omim.org/entry/620762){:target="_blank"}|
+|[SAMD9L](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SAMD9L/SAMD9L_ATXPC_individuals.ipynb){:target="_blank"}|21 Phenopackets;[Ataxia-pancytopenia syndrome](https://omim.org/entry/159550){:target="_blank"}|
+|[SATB2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SATB2/SATB2_GLASS_individuals.ipynb){:target="_blank"}|158 Phenopackets;[Glass syndrome](https://omim.org/entry/612313){:target="_blank"}|
+|[SC5D](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SC5D/SC5D_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Lathosterolosis](https://omim.org/entry/607330){:target="_blank"}|
+|[SCAF4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SCAF4/SCAF4_individuals.ipynb){:target="_blank"}|11 Phenopackets;[Fliedner-Zweier syndrome](https://omim.org/entry/620511){:target="_blank"}|
+|[SCARF2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SCARF2/SCARF2_VDEGS_individuals.ipynb){:target="_blank"}|6 Phenopackets;[Van den Ende-Gupta syndrome](https://omim.org/entry/600920){:target="_blank"}|
+|[SCN2A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SCN2A){:target="_blank"}|393 Phenopackets;[Developmental and epileptic encephalopathy 11](https://omim.org/entry/613721){:target="_blank"}[Seizures, benign familial infantile, 3](https://omim.org/entry/607745){:target="_blank"}|
+|[SCN5A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SCN5A/SCN5A_BRGDA1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Brugada syndrome 1](https://omim.org/entry/601144){:target="_blank"}|
+|[SCO2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SCO2){:target="_blank"}|37 Phenopackets;[Mitochondrial complex IV deficiency, nuclear type 2](https://omim.org/entry/604377){:target="_blank"}[Myopia 6](https://omim.org/entry/608912){:target="_blank"}[Myopia 6](https://omim.org/entry/608911){:target="_blank"}[Myopia 6](https://omim.org/entry/608909){:target="_blank"}[Myopia 6](https://omim.org/entry/608910){:target="_blank"}[Myopia 6](https://omim.org/entry/608913){:target="_blank"}[Myopia 6](https://omim.org/entry/608908){:target="_blank"}|
+|[SEC61A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SEC61A1){:target="_blank"}|18 Phenopackets;[Immunodeficiency, common variable, 15](https://omim.org/entry/620670){:target="_blank"}[Tubulointerstitial kidney disease, autosomal dominant, 5](https://omim.org/entry/617056){:target="_blank"}[Neutropenia, severe congenital, 11, autosomal dominant](https://omim.org/entry/620674){:target="_blank"}|
+|[SERAC1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SERAC1/SERAC1_MEGDEL_individuals.ipynb){:target="_blank"}|1 Phenopacket;[3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome](https://omim.org/entry/614739){:target="_blank"}|
+|[SETBP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SETBP1/SETBP1_Schinzel-Giedion_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Schinzel-Giedion midface retraction syndrome](https://omim.org/entry/269150){:target="_blank"}|
+|[SETD2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SETD2){:target="_blank"}|29 Phenopackets;[Intellectual developmental disorder, autosomal dominant 70](https://omim.org/entry/620157){:target="_blank"}[Rabin-Pappas syndrome](https://omim.org/entry/620155){:target="_blank"}[Luscan-Lumish syndrome](https://omim.org/entry/616831){:target="_blank"}|
+|[SF3B4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SF3B4/SF3B4_AFD1_individuals.ipynb){:target="_blank"}|26 Phenopackets;[Acrofacial dysostosis 1, Nager type](https://omim.org/entry/154400){:target="_blank"}|
+|[SHARPIN](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SHARPIN/SHARPIN_AIFID_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Autoinflammation with episodic fever and immune dysregulation](https://omim.org/entry/620795){:target="_blank"}|
+|[SKIC3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SKIC3/SKIC3_THES1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Trichohepatoenteric syndrome 1](https://omim.org/entry/222470){:target="_blank"}|
+|[SLC19A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC19A1/SLC19A1_IMD114_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Immunodeficiency 114, folate-responsive](https://omim.org/entry/620603){:target="_blank"}|
+|[SLC32A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC32A1){:target="_blank"}|38 Phenopackets;[Generalized epilepsy with febrile seizures plus, type 12](https://omim.org/entry/620755){:target="_blank"}[Developmental and epileptic encephalopathy 114](https://omim.org/entry/620774){:target="_blank"}|
+|[SLC35C1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC35C1/SLC35C1_CDG2C_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Congenital disorder of glycosylation, type IIc](https://omim.org/entry/266265){:target="_blank"}|
+|[SLC45A2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC45A2/SLC45A2_Moreno2022PMID_36553465.ipynb){:target="_blank"}|30 Phenopackets;[Albinism, oculocutaneous, type IV](https://omim.org/entry/606574){:target="_blank"}|
+|[SLC4A1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC4A1/SLC4A1_Summary.ipynb){:target="_blank"}|33 Phenopackets;[Spherocytosis, type 4](https://omim.org/entry/612653){:target="_blank"}[Cryohydrocytosis](https://omim.org/entry/185020){:target="_blank"}[Distal renal tubular acidosis 1](https://omim.org/entry/179800){:target="_blank"}[Distal renal tubular acidosis 4 with hemolytic anemia](https://omim.org/entry/611590){:target="_blank"}|
+|[SLC4A10](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC4A10/SLC4A10_NEDHBA_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities](https://omim.org/entry/620746){:target="_blank"}|
+|[SLC4A11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC4A11/SLC4A11_FECD4_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Corneal dystrophy, Fuchs endothelial, 4](https://omim.org/entry/613268){:target="_blank"}|
+|[SLC6A8](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC6A8/SLC6A8_CCDS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cerebral creatine deficiency syndrome 1](https://omim.org/entry/300352){:target="_blank"}|
+|[SLC9A3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SLC9A3/SLC9A3_DIAR8_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Diarrhea 8, secretory sodium, congenital](https://omim.org/entry/616868){:target="_blank"}|
+|[SMAD2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SMAD2/SMAD2_LDS6_individuals.ipynb){:target="_blank"}|16 Phenopackets;[Loeys-Dietz syndrome 6](https://omim.org/entry/619656){:target="_blank"}|
+|[SMAD3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SMAD3/SMAD3_LDS3_individuals.ipynb){:target="_blank"}|49 Phenopackets;[Loeys-Dietz syndrome 3](https://omim.org/entry/613795){:target="_blank"}|
+|[SMAD4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SMAD4/SMAD4_MYHRS_individuals.ipynb){:target="_blank"}|12 Phenopackets;[Myhre syndrome](https://omim.org/entry/139210){:target="_blank"}|
+|[SMARCB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SMARCB1){:target="_blank"}|17 Phenopackets;[Coffin-Siris syndrome 3](https://omim.org/entry/614608){:target="_blank"}[Rhabdoid tumor predisposition syndrome 1](https://omim.org/entry/609322){:target="_blank"}|
+|[SMARCC2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SMARCC2/SMARCC2_CSS8_individuals.ipynb){:target="_blank"}|65 Phenopackets;[Coffin-Siris syndrome 8](https://omim.org/entry/618362){:target="_blank"}|
+|[SMC3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SMC3/SMC3_CDLS3_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Cornelia de Lange syndrome 3](https://omim.org/entry/610759){:target="_blank"}|
+|[SNAP29](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SNAP29/SNAP29_CEDNIK_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome](https://omim.org/entry/609528){:target="_blank"}|
+|[SNAPC4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SNAPC4/SNAPC4_Frost_2023.ipynb){:target="_blank"}|10 Phenopackets;[Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction](https://omim.org/entry/620515){:target="_blank"}|
+|[SNX14](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SNX14/SNX14_SCAR20_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Spinocerebellar ataxia, autosomal recessive 20](https://omim.org/entry/616354){:target="_blank"}|
+|[SOCS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SOCS1/SOCS1_individuals.ipynb){:target="_blank"}|20 Phenopackets;[Autoinflammatory syndrome, familial, with or without immunodeficiency](https://omim.org/entry/619375){:target="_blank"}|
+|[SOD1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SOD1/SOD1_ALS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Amyotrophic lateral sclerosis 1](https://omim.org/entry/105400){:target="_blank"}|
+|[SON](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SON/Dingemans_2022_SON_PMID_34521999.ipynb){:target="_blank"}|52 Phenopackets;[ZTTK SYNDROME](https://omim.org/entry/617140){:target="_blank"}|
+|[SP7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SP7/SP7_OI12_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Osteogenesis imperfecta, type XII](https://omim.org/entry/613849){:target="_blank"}|
+|[SPG7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPG7/SPG7_SPG7_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Spastic paraplegia 7, autosomal recessive](https://omim.org/entry/607259){:target="_blank"}|
+|[SPIN4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPIN4/SPIN4_LJBS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Lui-Jee-Baron syndrome](https://omim.org/entry/301114){:target="_blank"}|
+|[SPINK5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPINK5/SPINK5_NS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Netherton syndrome](https://omim.org/entry/256500){:target="_blank"}|
+|[SPINT2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPINT2/SPINT2_DIAR3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Diarrhea 3, secretory sodium, congenital, syndromic](https://omim.org/entry/270420){:target="_blank"}|
+|[SPRED1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPRED1/SPRED1_LGSS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Legius syndrome](https://omim.org/entry/611431){:target="_blank"}|
+|[SPTA1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPTA1/SPTA1_EL2_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Elliptocytosis-2](https://omim.org/entry/130600){:target="_blank"}|
+|[SPTAN1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPTAN1/SPTAN1_Summary.ipynb){:target="_blank"}|85 Phenopackets;[Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia](https://omim.org/entry/620538){:target="_blank"}[Developmental and epileptic encephalopathy 5](https://omim.org/entry/613477){:target="_blank"}[Neuronopathy, distal hereditary motor, autosomal dominant 11](https://omim.org/entry/620528){:target="_blank"}[Developmental delay with or without epilepsy](https://omim.org/entry/620540){:target="_blank"}|
+|[SPTSSA](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SPTSSA){:target="_blank"}|3 Phenopackets;[Spastic paraplegia 90A, autosomal dominant](https://omim.org/entry/620416){:target="_blank"}[Spastic paraplegia 90B, autosomal recessive](https://omim.org/entry/620417){:target="_blank"}|
+|[SRSF1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SRSF1/SRSF1_Bogaert.ipynb){:target="_blank"}|15 Phenopackets;[Developmental and epileptic encephalopathy 28](https://omim.org/entry/616211){:target="_blank"}|
+|[ST14](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ST14/ST14_ARCI11_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Ichthyosis, congenital, autosomal recessive 11](https://omim.org/entry/602400){:target="_blank"}|
+|[STAT3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/STAT3/STAT3_HIES1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections](https://omim.org/entry/147060){:target="_blank"}|
+|[STK11](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/STK11/STK11_PJS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Peutz-Jeghers syndrome](https://omim.org/entry/175200){:target="_blank"}|
+|[STX4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/STX4/STX4_DFNB123_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Deafness, autosomal recessive 123](https://omim.org/entry/620745){:target="_blank"}|
+|[STXBP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/STXBP1/Xian_2022_STXBP1.ipynb){:target="_blank"}|463 Phenopackets;[Developmental and epileptic encephalopathy 4](https://omim.org/entry/612164){:target="_blank"}|
+|[SUOX](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SUOX/SUOX_Li_PMID_36303223_CreatePhenopackets.ipynb){:target="_blank"}|35 Phenopackets;[Sulfite oxidase deficiency](https://omim.org/entry/272300){:target="_blank"}|
+|[SV2A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SV2A/SV2A_DEE113_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Developmental and epileptic encephalopathy 113](https://omim.org/entry/620772){:target="_blank"}|
+|[SYCP2L](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/SYCP2L/SYCP2L_POF24_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Premature ovarian failure 24](https://omim.org/entry/620840){:target="_blank"}|
+|[TAF4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TAF4){:target="_blank"}|10 Phenopackets;[Intellectual developmental disorder, autosomal dominant 73](https://omim.org/entry/620450){:target="_blank"}|
+|[TANGO2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TANGO2/TANGO2_MECRCN_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration](https://omim.org/entry/616878){:target="_blank"}|
+|[TBCK](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TBCK/TBCK_IHPRF3_individuals.ipynb){:target="_blank"}|23 Phenopackets;[Hypotonia, infantile, with psychomotor retardation and characteristic facies 3](https://omim.org/entry/616900){:target="_blank"}|
+|[TBL1XR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TBL1XR1/TBL1XR1_PRPTS_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Pierpont syndrome](https://omim.org/entry/602342){:target="_blank"}|
+|[TBX1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TBX1){:target="_blank"}|26 Phenopackets;[DiGeorge syndrome](https://omim.org/entry/188400){:target="_blank"}|
+|[TBX5](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TBX5/TBX5_individuals.ipynb){:target="_blank"}|156 Phenopackets;[Holt-Oram syndrome](https://omim.org/entry/142900){:target="_blank"}|
+|[TCOF1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TCOF1/TCOF1_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Treacher Collins syndrome 1](https://omim.org/entry/154500){:target="_blank"}|
+|[TECRL](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TECRL/TECRL_CPTV3_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Ventricular tachycardia, catecholaminergic polymorphic, 3](https://omim.org/entry/614021){:target="_blank"}|
+|[TEFM](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TEFM/TEFM_van_Haute_2023.ipynb){:target="_blank"}|7 Phenopackets;[Combined oxidative phosphorylation deficiency 58](https://omim.org/entry/620451){:target="_blank"}|
+|[TFAP2A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TFAP2A/TFAP2A_BOFS_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Branchiooculofacial syndrome](https://omim.org/entry/113620){:target="_blank"}|
+|[TGFB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TGFB1/TGFB1_CAEND_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Camurati-Engelmann disease](https://omim.org/entry/131300){:target="_blank"}|
+|[TGFB2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TGFB2/TGFB2_LDS4_individuals.ipynb){:target="_blank"}|35 Phenopackets;[Loeys-Dietz syndrome 4](https://omim.org/entry/614816){:target="_blank"}|
+|[TGFB3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TGFB3/TGFB3_LDS5_individuals.ipynb){:target="_blank"}|43 Phenopackets;[Loeys-Dietz syndrome 5](https://omim.org/entry/615582){:target="_blank"}|
+|[TGFBR1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TGFBR1){:target="_blank"}|29 Phenopackets;[Loeys-Dietz syndrome 1](https://omim.org/entry/609192){:target="_blank"}[Multiple self-healing squamous epithelioma, susceptibility to](https://omim.org/entry/132800){:target="_blank"}|
+|[TGFBR2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TGFBR2/TGFBR2_LDS2_individuals.ipynb){:target="_blank"}|21 Phenopackets;[Loeys-Dietz syndrome 2](https://omim.org/entry/610168){:target="_blank"}|
+|[TGIF1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TGIF1/TGIF1_HPE4_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Holoprosencephaly 4](https://omim.org/entry/142946){:target="_blank"}|
+|[TINF2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TINF2/TINF2_DKCA3_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Dyskeratosis congenita, autosomal dominant 3](https://omim.org/entry/613990){:target="_blank"}|
+|[TJP2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TJP2/TJP2_PFIC4_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cholestasis, progressive familial intrahepatic 4](https://omim.org/entry/615878){:target="_blank"}|
+|[TMEM199](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TMEM199/TMEM199_CDG2P_individuals.ipynb){:target="_blank"}|7 Phenopackets;[Congenital disorder of glycosylation, type Iip](https://omim.org/entry/616829){:target="_blank"}|
+|[TMEM260](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TMEM260/TMEM260_SHDRA_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Structural heart defects and renal anomalies syndrome](https://omim.org/entry/617478){:target="_blank"}|
+|[TMEM38B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TMEM38B/TMEM38B_OI14_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Osteogenesis imperfecta, type XIV](https://omim.org/entry/615066){:target="_blank"}|
+|[TMTC4](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TMTC4/TMTC4_DFNB122_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Deafness, autosomal recessive 122](https://omim.org/entry/620714){:target="_blank"}|
+|[TOMM7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TOMM7/TOMM7_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Garg-Mishra progeroid syndrome](https://omim.org/entry/620601){:target="_blank"}|
+|[TP53RK](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TP53RK/TP53RK_GAMOS4_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Galloway-Mowat syndrome 4](https://omim.org/entry/617730){:target="_blank"}|
+|[TPM2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TPM2/TPM2_CMYP23_individuals.ipynb){:target="_blank"}|8 Phenopackets;[Congenital myopathy 23](https://omim.org/entry/609285){:target="_blank"}|
+|[TPM3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TPM3/TPM3_CMYP4B_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Congenital myopathy 4B, autosomal recessive](https://omim.org/entry/609284){:target="_blank"}|
+|[TRAF7](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TRAF7/TRAF7_Castilla-Vallmanya_2020.ipynb){:target="_blank"}|45 Phenopackets;[Cardiac, facial, and digital anomalies with developmental delay](https://omim.org/entry/618164){:target="_blank"}|
+|[TRMT10C](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TRMT10C/TRMT10C_COXPD30_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Combined oxidative phosphorylation deficiency 30](https://omim.org/entry/616974){:target="_blank"}|
+|[TRPS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TRPS1/TRPS1_TRPS1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Trichorhinophalangeal syndrome, type I](https://omim.org/entry/190350){:target="_blank"}|
+|[TSC1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TSC1/TSC1_TSC1_individuals.ipynb){:target="_blank"}|5 Phenopackets;[Tuberous sclerosis-1](https://omim.org/entry/191100){:target="_blank"}|
+|[TSC2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TSC2/TSC2_TSC2_individuals.ipynb){:target="_blank"}|9 Phenopackets;[Tuberous sclerosis-2](https://omim.org/entry/613254){:target="_blank"}|
+|[TSPOAP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TSPOAP1/TSPOAP1_individuals.ipynb){:target="_blank"}|3 Phenopackets;[Dystonia 22, adult-onset](https://omim.org/entry/620456){:target="_blank"}|
+|[TUBB2B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TUBB2B/TUBB2B_CDCBM7_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Cortical dysplasia, complex, with other brain malformations 7](https://omim.org/entry/610031){:target="_blank"}|
+|[TYRP1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/TYRP1/TYRP1_OCA3_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Albinism, oculocutaneous, type III](https://omim.org/entry/203290){:target="_blank"}|
+|[U2AF2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/U2AF2){:target="_blank"}|49 Phenopackets;[Developmental delay, dysmorphic facies, and brain anomalies](https://omim.org/entry/620535){:target="_blank"}|
+|[UBAP2L](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/UBAP2L/UBAP2L_NEDLBF_Jia_2022.ipynb){:target="_blank"}|12 Phenopackets;[Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies](https://omim.org/entry/620494){:target="_blank"}|
+|[UMOD](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/UMOD/UMOD_ADTKD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Tubulointerstitial kidney disease, autosomal dominant, 1](https://omim.org/entry/162000){:target="_blank"}|
+|[USB1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/USB1/USB1_PN_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Poikiloderma with neutropenia](https://omim.org/entry/604173){:target="_blank"}|
+|[VCP](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/VCP/VCP_IBMPFD1_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1](https://omim.org/entry/167320){:target="_blank"}|
+|[VPS13A](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/VPS13A/VPS13A_CHAC_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Choreoacanthocytosis](https://omim.org/entry/200150){:target="_blank"}|
+|[VPS13B](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/VPS13B/VPS13B_COH1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Cohen syndrome](https://omim.org/entry/216550){:target="_blank"}|
+|[VPS13C](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/VPS13C/VPS13C_PARK23_individuals.ipynb){:target="_blank"}|4 Phenopackets;[Parkinson disease 23, autosomal recessive, early onset](https://omim.org/entry/616840){:target="_blank"}|
+|[VRK1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/VRK1/VRK1_HMNR10_cohort.ipynb){:target="_blank"}|8 Phenopackets;[Neuronopathy, distal hereditary motor, autosomal recessive 10](https://omim.org/entry/620542){:target="_blank"}|
+|[WDR26](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/WDR26/WDR26_SKDEAS_individuals.ipynb){:target="_blank"}|15 Phenopackets;[Skraban-Deardorff syndrome](https://omim.org/entry/617616){:target="_blank"}|
+|[WFS1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/WFS1/WFS1_Wolfram_syndrome_1_individuals.ipynb){:target="_blank"}|10 Phenopackets;[Wolfram syndrome 1](https://omim.org/entry/222300){:target="_blank"}|
+|[WNK1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/WNK1/WNK1_HSAN2A_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Neuropathy, hereditary sensory and autonomic, type II](https://omim.org/entry/201300){:target="_blank"}|
+|[WNT1](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/WNT1/WNT1_OI15_individuals.ipynb){:target="_blank"}|1 Phenopacket;[Osteogenesis imperfecta, type XV](https://omim.org/entry/615220){:target="_blank"}|
+|[WWOX](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/WWOX){:target="_blank"}|34 Phenopackets;[Spinocerebellar ataxia, autosomal recessive 12](https://omim.org/entry/614322){:target="_blank"}[Developmental and epileptic encephalopathy 28](https://omim.org/entry/616211){:target="_blank"}|
+|[ZIC2](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ZIC2/ZIC2_HPE5_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Holoprosencephaly 5](https://omim.org/entry/609637){:target="_blank"}|
+|[ZIC3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ZIC3/ZIC3_HTX1_individuals.ipynb){:target="_blank"}|2 Phenopackets;[Heterotaxy, visceral, 1, X-linked](https://omim.org/entry/306955){:target="_blank"}|
+|[ZMYM3](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ZMYM3/ZMYM3_Summary.ipynb){:target="_blank"}|29 Phenopackets;[Intellectual developmental disorder, X-linked 112](https://omim.org/entry/301111){:target="_blank"}|
+|[ZSWIM6](https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks/ZSWIM6){:target="_blank"}|16 Phenopackets;[Acromelic frontonasal dysostosis](https://omim.org/entry/603671){:target="_blank"}[Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features](https://omim.org/entry/617865){:target="_blank"}|
diff --git a/pyproject.toml b/pyproject.toml
index 2624df9e..386f61fa 100644
--- a/pyproject.toml
+++ b/pyproject.toml
@@ -47,6 +47,14 @@ notebooks = [
     "seaborn>=0.12.2, <1.0.0",   # 0.12.2 was released on Dec 30, 2022
 ]
 
+docs = [
+    "mkdocstrings[python]",
+    "mkdocs-material[imaging]",
+    "mkdocs-material-extensions",
+    "pillow",
+    "cairosvg",
+]
+
 
 [project.urls]
 homepage = "https://github.com/monarch-initiative/phenopacket-store"
diff --git a/src/ppktstore/__main__.py b/src/ppktstore/__main__.py
index 77e8cbec..f25b81ca 100644
--- a/src/ppktstore/__main__.py
+++ b/src/ppktstore/__main__.py
@@ -29,11 +29,27 @@ def main(argv) -> int:
         '--output', required=False, default='phenopackets.zip',
         help='where to write the release archive')
 
-    # #################### ------------- `check` --------------- ####################
+    # #################### ------------- `qc` ------------------ ####################
     parser_check = subparsers.add_parser('qc', help='Q/C phenopackets')
     parser_check.add_argument(
         '--notebook-dir', default='notebooks',
         help='path to cohorts directory')
+    
+    # #################### ------------- `report` -------------- ####################
+    report = subparsers.add_parser('report', help='Generate reports')
+    subparsers_report = report.add_subparsers(dest='report_command')
+    
+    parser_collections = subparsers_report.add_parser('collections', help='Generate collections report')
+    parser_collections.add_argument(
+        '--notebook-dir', default='notebooks',
+        help='path to cohorts directory')
+    parser_collections.add_argument(
+        '--notebook-dir-url', default='https://github.com/monarch-initiative/phenopacket-store/tree/main/notebooks',
+        help='URL pointing to notebooks folder on GitHub')
+    parser_collections.add_argument(
+        '--output',
+        help='where to generate the collections report')
+
 
     if len(argv) == 0:
         parser.print_help()
@@ -54,8 +70,19 @@ def main(argv) -> int:
             notebook_dir=args.notebook_dir,
             logger=logger,
         )
+    elif args.command == 'report':
+        if args.report_command == 'collections':
+            return generate_collections_report(
+                notebook_dir=args.notebook_dir,
+                notebook_dir_url=args.notebook_dir_url,
+                output=args.output,
+                logger=logger,
+            )
+        else:
+            report.print_help()
+            return 1
     else:
-        parser_package.print_help()
+        parser.print_help()
         return 1
 
 
@@ -114,6 +141,27 @@ def read_phenopacket_store(
     return phenopacket_store
 
 
+def generate_collections_report(
+        notebook_dir: str,
+        notebook_dir_url: str,
+        output: str,
+        logger: logging.Logger,
+) -> int:
+    logger.info('Generating report for phenopackets at %s', notebook_dir)
+    logger.info('Using notebook URL `%s`', notebook_dir_url)
+    report = ppktstore.stats.generate_phenopacket_store_report(
+        notebook_dir=notebook_dir,
+        notebook_dir_url=notebook_dir_url,
+    )
+
+    logger.info('Writing report to %s', output)
+    with open(output, 'w') as fh:
+        fh.write(report)
+
+    logger.info('Done!')
+    return 0
+
+
 def setup_logging():
     level = logging.INFO
     logger = logging.getLogger()
diff --git a/src/ppktstore/stats/_markdown.py b/src/ppktstore/stats/_markdown.py
index 3173a1dc..8433692f 100644
--- a/src/ppktstore/stats/_markdown.py
+++ b/src/ppktstore/stats/_markdown.py
@@ -8,6 +8,7 @@
 
 def generate_phenopacket_store_report(
     notebook_dir: str,
+    notebook_dir_url: str,
 ) -> str:
     """
     Generate report in Markdown format.
@@ -39,7 +40,7 @@ def generate_phenopacket_store_report(
 
         cohort_count = len(cohort.phenopackets)
 
-        notebook_link = _choose_cohort_notebook(notebook_dir, cohort.name)
+        notebook_link = _prepare_cohort_link(notebook_dir_url, notebook_dir, cohort.name)
         cohort_text = "[" + cohort.name + "](" + notebook_link + '){:target="_blank"}'
         table_data.append(cohort_text)
         
@@ -91,25 +92,28 @@ def _prepare_dx_link(
         return "http://purl.obolibrary.org/obo/" + dx_id.replace(":", "_")
 
 
-def _choose_cohort_notebook(
+def _prepare_cohort_link(
+    notebook_dir_url: str, 
     notebook_dir: str,
     cohort_name: str,
 ) -> str:
     cohort_dir = os.path.join(notebook_dir, cohort_name)
+    cohort_url = os.path.join(notebook_dir_url, cohort_name)
     notebook_links = [
-        os.path.join(cohort_dir, fname)
+        os.path.join(cohort_url, fname)
         for fname in os.listdir(cohort_dir)
         if fname.endswith(".ipynb")
     ]
+
     if len(notebook_dir) == 0:
-        return cohort_dir
+        return cohort_url
     if len(notebook_links) == 1:
         # just take the notebook
         return notebook_links[0]
     else:
         # try to find the summary notebook
-        for link in notebook_links:
-            if "summary" in link.lower():
-                return link
-        # or return link to the folder itself in the absence of the summary notebook
-        return cohort_dir
+        for nb_link in notebook_links:
+            if "summary" in nb_link.lower():
+                return nb_link
+        # or use link to the folder itself in the absence of the summary notebook
+        return cohort_url