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Items: 7

1.

Tooth agenesis, selective, 4

Any tooth agenesis in which the cause of the disease is a mutation in the WNT10A gene. [from MONDO]

MedGen UID:
372057
Concept ID:
C1835492
Disease or Syndrome
2.

Oligodontia-cancer predisposition syndrome

Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. [from ORDO]

MedGen UID:
324868
Concept ID:
C1837750
Neoplastic Process
3.

Hypotrichosis 14

Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair (Romano et al., 2018). For a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389). [from OMIM]

MedGen UID:
1648477
Concept ID:
C4748930
Disease or Syndrome
4.

Onychotrichodysplasia and neutropenia

MedGen UID:
340512
Concept ID:
C1850316
Disease or Syndrome
5.

Faciocardiomelic syndrome

MedGen UID:
436265
Concept ID:
C2674798
Disease or Syndrome
6.

Tan-Almurshedi syndrome

Tan-Almurshedi syndrome (TANALS) is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features (Westrip et al., 2023). [from OMIM]

MedGen UID:
1848300
Concept ID:
C5882727
Disease or Syndrome
7.

Short eyelashes

Decreased length of the eyelashes (subjective). [from HPO]

MedGen UID:
411272
Concept ID:
C2748682
Finding
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