Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities

Preferred Label : Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Odontotrichomelic syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 273400;

Details

Origin ID

273400;

UMLS CUI

C2930960;

Automatic exact mappings (from CISMeF team)
- growth retardation, alopecia, pseudoanodontia and optic atrophy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Freire-Maia odontotrichomelic syndrome [MeSH Supplementary Concept]
- Freire-Maia odontotrichomelic syndrome [MeSH concept]
- Odontotrichomelic syndrome [ICD-11 More detail]
- Odontotrichomelic syndrome [ORDO Disease]
- Odontotrichomelic syndrome (disorder) [SNOMED CT concept]
False automatic mappings
- Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) [SNOMED CT concept]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Abnormality of the dentition [HPO term]
- Abnormality of the neck [HPO term]
- Abnormality of the pinna [HPO term]
- Aminoaciduria [HPO term]
- Arrhythmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft upper lip [HPO term]
- EEG abnormality [HPO term]
- Ectodermal dysplasia [HPO term]
- Hypogonadism [HPO term]
- Hypoplastic areola [HPO term]
- Hypoplastic nipples [HPO term]
- Hypoplastic nipples and areolae [HPO term]
- Hypotrichosis [HPO term]
- Intellectual disability [HPO term]
- Nasolacrimal duct obstruction [HPO term]
- Small nail [HPO term]
- Sparse hair [HPO term]
- Tetraamelia [HPO term]
ORDO concept(s)
- Odontotrichomelic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Freire-Maia odontotrichomelic syndrome [MeSH concept]
- Freire-Maia odontotrichomelic syndrome [MeSH Supplementary Concept]
- GAPO syndrome [ORDO Disease]
- Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy [MeSH concept]
- Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) [SNOMED CT concept]
- Odontotrichomelic syndrome (disorder) [SNOMED CT concept]
- growth retardation, alopecia, pseudoanodontia and optic atrophy [MeSH Supplementary Concept]

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