Osteoporosis and oculocutaneous hypopigmentation syndrome

Preferred Label : Osteoporosis and oculocutaneous hypopigmentation syndrome;

Symbol : OOCH;

CISMeF acronym : OOCH;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : ? Autosomal recessive;

Prefixed ID : 601220;

Details

Origin ID

601220;

UMLS CUI

C1832592;

Currated CISMeF NLP mapping
- Hernandez Fragoso syndrome [MeSH concept]
- Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) [SNOMED CT concept]
- Osteoporosis-oculocutaneous hypopigmentation syndrome [ORDO Disease]
- hernandez fragoso syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Generalized osteoporosis [HPO term]
- Hypopigmentation of the skin [HPO term]
- Ocular albinism [HPO term]
- Osteoporosis [HPO term]
Not associated HPO term(s)
- Morphological central nervous system abnormality [HPO term]
ORDO concept(s)
- Osteoporosis-oculocutaneous hypopigmentation syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hernandez Fragoso syndrome [MeSH concept]
- Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) [SNOMED CT concept]
- Osteoporosis-oculocutaneous hypopigmentation syndrome [ORDO Disease]
- hernandez fragoso syndrome [MeSH Supplementary Concept]

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