Microphthalmia with cyst, bilateral facial clefts, and limb anomalies

Preferred Label : Microphthalmia with cyst, bilateral facial clefts, and limb anomalies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Isolated cases;

Prefixed ID : 607597;

Details

Origin ID

607597;

UMLS CUI

C1843492;

Currated CISMeF NLP mapping
- microphthalmia with cyst, bilateral facial clefts, and limb anomalies [MeSH concept]
- microphthalmia with cyst, bilateral facial clefts, and limb anomalies [MeSH Supplementary Concept]
HPO term(s)
- 'Chubby' proximal phalanges [HPO term]
- Abnormal hair morphology [HPO term]
- Bilateral microphthalmos [HPO term]
- Brachyturricephaly [HPO term]
- Broad proximal phalanges of the hand [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Depressed nasal ridge [HPO term]
- Ethmoidal encephalocele [HPO term]
- Eyelid coloboma [HPO term]
- Facial cleft [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- High, narrow palate [HPO term]
- Hyperpigmented nevi [HPO term]
- Isolated cases [HPO term]
- Joint hypermobility [HPO term]
- Low-set ears [HPO term]
- Optic nerve hypoplasia [HPO term]
- Posteriorly rotated ears [HPO term]
- Short foot [HPO term]
- Small feet [HPO term]
- Sporadic [HPO term]
- Telecanthus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- microphthalmia with cyst, bilateral facial clefts, and limb anomalies [MeSH Supplementary Concept]
- microphthalmia with cyst, bilateral facial clefts, and limb anomalies [MeSH concept]

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