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Osteoporosis and Oculocutaneous Hypopigmentation Syndrome (OOCH)

Alias:
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Oochs
Hernández-Fragoso Syndrome
Hernandez-Fragoso Syndrome
Hernandez Fragoso Syndrome
Ooch
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteoporosis and Oculocutaneous Hypopigmentation Syndrome, also known as osteoporosis-oculocutaneous hypopigmentation syndrome, is related to dilution, pigmentary and osteoporosis. Affiliated tissues include bone and skin, and related phenotypes are nystagmus and kyphosis
Related ID：
MALACARDS：OST151
OMIM：601220

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
--
--
1
OST151

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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