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Items: 3

1.

Trichothiodystrophy 5, nonphotosensitive

Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by Mendelsohn et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675). [from OMIM]

MedGen UID:
899675
Concept ID:
C4225420
Disease or Syndrome
2.

Widely spaced primary teeth

Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. [from HPO]

MedGen UID:
867244
Concept ID:
C4021603
Finding
3.

Odonto-onycho-dermal dysplasia

Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by Adaimy et al., 2007; Yu et al., 2019). [from OMIM]

MedGen UID:
208666
Concept ID:
C0796093
Disease or Syndrome
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