Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

Preferred Label : Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis;

Symbol : SOFT;

CISMeF acronym : SOFT;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Soft syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the POC1 centriolar protein A gene (POC1A, 614783.0001);

Prefixed ID : #614813;

Details

Origin ID

614813;

UMLS CUI

C3542022;

Automatic exact mappings (from CISMeF team)
- soft [Radlex concept]
Currated CISMeF NLP mapping
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) [SNOMED CT concept]
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome [ORDO Disease]
False automatic mappings
- Soft [NCIt concept]
- Soft (qualifier value) [SNOMED CT concept]
- soft [SNOMED Notion]
Genes related to phenotype
- Poc1 centriolar protein a [OMIM gene]
HPO term(s)
- Abnormality of the dentition [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Breast hypoplasia [HPO term]
- Broad nasal tip [HPO term]
- Clinodactyly [HPO term]
- Clitoral hypoplasia [HPO term]
- Cone-shaped epiphysis [HPO term]
- Deeply set eye [HPO term]
- Developmental regression [HPO term]
- Diabetes mellitus [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High forehead [HPO term]
- High pitched voice [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic pelvis [HPO term]
- Hypoplastic sacrum [HPO term]
- Hypotonia [HPO term]
- Long face [HPO term]
- Long philtrum [HPO term]
- Low hanging columella [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Nail dysplasia [HPO term]
- Oligospermia [HPO term]
- Osteopenia [HPO term]
- Pointed chin [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent forehead [HPO term]
- Prominent nose [HPO term]
- Rhizomelia [HPO term]
- Short distal phalanx of finger [HPO term]
- Short femoral neck [HPO term]
- Short foot [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Small for gestational age [HPO term]
- Small hand [HPO term]
- Small nail [HPO term]
- Sparse hair [HPO term]
- Triangular face [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) [SNOMED CT concept]
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome [ORDO Disease]

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