ODCs

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1 OMIM reference -
3 associated genes
6 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Brachydactyly type A2

X-linked central congenital hypothyroidism with late-onset testicular enlargement


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	BMPR1B	(0.63)	IGSF1

Citations in the biomedical literature:

Brachydactyly type A2		X-linked central congenital hypothyroidism with late-onset testicular enlargement
	Synonym(s): - Brachydactyly, Mohr-Wriedt type		Synonym(s): - X-linked central congenital hypothyroidism with late-onset macroorchidism

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare endocrine disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - 1 MeSH reference: C537089		External references: 1 OMIM reference - No MeSH references

Brachydactyly type A2
	Very frequent - Autosomal dominant inheritance - Short hand / brachydactyly Frequent - Clinodactyly of fifth finger - Short foot / brachydactyly of toes Occasional - Metacarpal anomalies / Archibald's sign - Terminal / third phalangeal bone of fingers hypoplasia
X-linked central congenital hypothyroidism with late-onset testicular enlargement
(no data available)