Microphthalmia with limb anomalies

Preferred Label : Microphthalmia with limb anomalies;

Symbol : MLA;

CISMeF acronym : MLA; OAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : OAS; ANOPHTHALMIA-SYNDACTYLY; Ophthalmoacromelic syndrome; Waardenburg anophthalmia syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the SPARC-related modular calcium-binding 1 gene (SMOC1, 608488.0001);

Prefixed ID : #206920;

Details

Origin ID

206920;

UMLS CUI

C0599973;

Automatic exact mappings (from CISMeF team)
- Ophthalmoacromelic syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Anophthalmos with limb anomalies [MeSH concept]
- Microphthalmia with limb anomalies [ORDO Disease]
- Ophthalmo-acromelic syndrome (disorder) [SNOMED CT concept]
- anophthalmos with limb anomalies [MeSH Supplementary Concept]
- microphthalmia with limb anomalies [DO Concept]
DO Cross reference
- microphthalmia with limb anomalies [DO Concept]
Genes related to phenotype
- Sparc-related modular calcium-binding 1 [OMIM gene]
HPO term(s)
- 4-5 metacarpal synostosis [HPO term]
- Abnormal hair morphology [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Anophthalmia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Camptodactyly of 2nd-5th fingers [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinical anophthalmia, unilateral/bilateral [HPO term]
- Deep philtrum [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Fibular hypoplasia [HPO term]
- Flared nostrils [HPO term]
- Flattened nasal bridge [HPO term]
- Foot oligodactyly [HPO term]
- Frontal bossing [HPO term]
- Growth delay [HPO term]
- Hand oligodactyly [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Intellectual disability [HPO term]
- Low-set ears [HPO term]
- Microphthalmia [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Prominent forehead [HPO term]
- Prominent philtrum [HPO term]
- Retrognathia [HPO term]
- Sandal gap [HPO term]
- Short nose [HPO term]
- Short palpebral fissure [HPO term]
- Single transverse palmar crease [HPO term]
- Talipes equinovarus [HPO term]
- Tibial bowing [HPO term]
- Toe syndactyly [HPO term]
Not associated HPO term(s)
- Abnormal eyelash morphology [HPO term]
ORDO concept(s)
- Microphthalmia with limb anomalies [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anophthalmos with limb anomalies [MeSH concept]
- Microphthalmia with limb anomalies [ORDO Disease]
- Ophthalmo-acromelic syndrome (disorder) [SNOMED CT concept]
- anophthalmos with limb anomalies [MeSH Supplementary Concept]
- microphthalmia with limb anomalies [DO Concept]

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