Oculotrichodysplasia(OTD)

MedGen UID:: 340517
•Concept ID:: C1850332
•: Disease or Syndrome

Synonym:	OTD
SNOMED CT:	Oculotrichodysplasia (722062004); Cecatto de Lima Pinheiro syndrome (722062004)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009771
OMIM®:	257960
Orphanet:	ORPHA2718

Definition

This disease has characteristics of retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOculotrichodysplasia

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Oculotrichodysplasia

Follow this link to review classifications for Oculotrichodysplasia in Orphanet.

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Oculotrichodysplasia(OTD)

Definition

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