Human Phenotype Ontology 
Grandparent Node:
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Congenital contracture (HP:0002803)help
Parent Node:
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Distal arthrogryposis (HP:0005684)help
..Starting node
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Arthrogryposis-like hand anomaly (HP:0005612)help
Term ID: 5612
Name: Arthrogryposis-like hand anomaly
Synonym:
Definition:
Comments:
Reference: HP:0005612
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005612HP:0005612Arthrogryposis-like hand anomaly0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0005612HP:0005612Arthrogryposis-like hand anomaly0REEP1 CL E G H6505525786OMIM:62001187


Genes (2) :MED13L REEP1

Diseases (2) :ORPHA:369891 OMIM:620011
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.