Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities

Preferred Label : Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 273390;

Details

Origin ID

273390;

UMLS CUI

C2931214;

Automatic exact mappings (from CISMeF team)
- Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities [MeSH concept]
- madokoro ohdo sonoda syndrome [MeSH Supplementary Concept]
- tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Absent lacrimal punctum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbous nose [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Downturned corners of mouth [HPO term]
- Ectodermal dysplasia [HPO term]
- High, narrow palate [HPO term]
- Hypoplastic lacrimal duct [HPO term]
- Hypotrichosis [HPO term]
- Intellectual disability [HPO term]
- Preauricular pit [HPO term]
- Sacral dimple [HPO term]
- Sparse hair [HPO term]
- Tetraamelia [HPO term]
- Umbilical hernia [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide mouth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities [MeSH concept]
- tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities [MeSH Supplementary Concept]

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