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DO Term : congenital contractural arachnodactyly [DOID:0111595] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3.

synonyms:
ear anomalies-contractures-dysplasia of bone with kyphoscoliosis,
arachnodactyly, contractural Beals type,
contractures, multiple with arachnodactyly,
CCA,
Beals syndrome,
OMIM:121050,
NCI:C129865,
121050,
MESH:C536211,
UMLS_CUI:C0220668,
distal arthrogryposis type 9,
Beals-Hecht syndrome,
SNOMEDCT_US_2023_03_01:205821003,
ORDO:115

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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