Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the epiphysis of the femoral head (HP:0010574)help
Grandparent Node:
expandAbsent epiphyses (HP:0010577)help
Parent Node:
expandAplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)help
..Starting node
..expandHypoplasia of the capital femoral epiphysis (HP:0003090)help
Term ID: 3090
Name: Hypoplasia of the capital femoral epiphysis
Synonym: Small capital femoral epiphyses; Small femoral capital epiphyses; Small innermost thighbone end part; Small proximal femoral epiphyses; Underdevelopment of the innermost thighbone end part
Definition: Underdevelopment of the proximal epiphysis of the femur.
Comments:
Reference: HP:0003090
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbsent ossification of capital femoral epiphysis (HP:0008820) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040283 - Occasional89
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 5.32
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0PLOD3 CL E G H89859083OMIM:612394Bone fragility with contractures, arterial rupture, and deafness.5
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0003090HP:0003090Hypoplasia of the capital femoral epiphysis0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46


Genes (16) :ADAMTSL2 CANT1 CDC6 CHST3 COL2A1 COMP DYM EXTL3 HS2ST1 IFT140 KIF22 MATN3 PIK3C2A PLOD3 SMARCAL1 TRAPPC2

Diseases (16) :OMIM:231050 OMIM:617719 OMIM:613805 OMIM:143095 ORPHA:85166 ORPHA:750 ORPHA:239 OMIM:617425 OMIM:619194 OMIM:266920 OMIM:603546 OMIM:607078 ORPHA:557003 OMIM:612394 OMIM:242900 OMIM:313400
 

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