Oculotrichodysplasia

Preferred Label : Oculotrichodysplasia;

Symbol : OTD;

CISMeF acronym : OTD;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Cecatto-De-Lima et al. (1988) described a brother and sister, the offspring of first cousins, with retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. The brother and sister belonged to a sibship of 13. The hair anomaly in the female proband consisted of generalized hypotrichosis with sparse scalp, axillary, and pubic hair as well as scanty eyelashes and sparse eyebrows in the distal two-thirds. Scanning electron microscopy showed structural changes in the hairs. The finger- and toenails were fragile and brittle. The teeth were few and carious with extensive extractions. The skin was dry and scaling. The deciduous teeth had been small, pointed, and widely spaced, but they had erupted at the normal time. The hypotrichosis in the brother was less severe. His retinitis pigmentosa was also less severe, but this was probably because he was younger than his sister. *FIELD* RF 1. Cecatto-De-Lima, L.; Pinheiro, M.; Freire-Maia, N.: Oculotrichodysplasia (OTD): a new probably autosomal recessive condition. J. Med. Genet. 25: 430-432, 1988. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 257960;

Details

Origin ID

257960;

UMLS CUI

C1850332;

Automatic exact mappings (from CISMeF team)
- Oculotrichodysplasia [ICD-11 More detail]
- Oculotrichodysplasia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Oculotrichodysplasia [ORDO Disease]
- oculotrichodysplasia [MeSH concept]
- oculotrichodysplasia [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Agenesis of permanent teeth [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Dry skin [HPO term]
- Fragile nails [HPO term]
- Generalized hypotrichosis [HPO term]
- Microdontia of primary teeth [HPO term]
- Nail dysplasia [HPO term]
- Rod-cone dystrophy [HPO term]
- Scaling skin [HPO term]
- Scant eyelashes [HPO term]
- Sparse axillary hair [HPO term]
- Sparse eyelashes [HPO term]
- Sparse lateral eyebrow [HPO term]
- Sparse pubic hair [HPO term]
- Sparse scalp hair [HPO term]
- Sparse scalp, axillary, and pubic hair [HPO term]
- Trichodysplasia [HPO term]
- Widely spaced primary teeth [HPO term]
ORDO concept(s)
- Oculotrichodysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculotrichodysplasia [ORDO Disease]
- Oculotrichodysplasia (disorder) [SNOMED CT concept]
- oculotrichodysplasia [MeSH Supplementary Concept]
- oculotrichodysplasia [MeSH concept]

Keyword's position in hierarchy(ies) :

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