Preferred Label : Microphthalmia, syndromic 9;
Symbol : MCOPS9;
CISMeF acronym : MCOPCB8; MCOPS9; PDAC; PMD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Anophthalmia, clinical, with mild facial dysmorphism and variable malformations of
the lung, heart, and diaphragm; Anophthalmia/microphthalmia and pulmonary hypoplasia; Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect; Spear syndrome; Matthew-wood syndrome; Pulmonary agenesis, microphthalmia, and diaphragmatic defect; PDAC; PMD;
Included titles and symbols : Microphthalmia, isolated, with coloboma 8; MCOPCB8;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the homolog of the mouse stimulated by retinoic acid-6 gene
(STRA6, 610745.0007);
Prefixed ID : #601186;
Origin ID : 601186;
UMLS CUI : C1832661;
- Automatic exact mappings (from CISMeF team)
- CISMeF manual mappings
- Currated CISMeF NLP mapping
- DO Cross reference
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)