Disease #01480 (SSOAOD (short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)), OMIM:165800)

Official abbreviation SSOAOD
Name short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)
OMIM ID 165800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 9
Phenotype entries for this disease 7
Associated with 1 gene ACAN
Associated tissues -
Disease features -
Remarks autosomal dominant


Individuals

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00260782 III-11 - - M no China chinese >08y 0 yes alendronate OI-1, SSOAOD (HP:0004322) Short stature, 1 fracture, (HP:0000703) Dentinogenesis imperfecta, (HP:0002980) Femoral bowing, (HP:0000592) Blue sclerae ACAN, COL1A1 ACAN, COL1A1 2 13 Wenjuan Qiu
00260851 III-9 - - F no China chinese - 0 yes - OI-1, SSOAOD 2 fracture, short stature (HP:0004322) ACAN, COL1A1 ACAN, COL1A1 2 1 Wenjuan Qiu
00261194 I-4 - - F no China chinese - 0 yes - SSOAOD - ACAN ACAN 1 1 Wenjuan Qiu
00261195 II-6 - - F no China chinese - 0 yes - SSOAOD - ACAN ACAN 1 1 Wenjuan Qiu
00261197 II-7 - - M no China chinese - 0 yes - SSOAOD - ACAN ACAN 1 1 Wenjuan Qiu
00261198 II-9 - - M no China chinese - 0 yes - SSOAOD - ACAN ACAN 1 1 Wenjuan Qiu
00261199 II-11 - - M no China chinese - 0 yes - SSOAOD - ACAN ACAN 1 1 Wenjuan Qiu
00261200 III-14 - - M no China chinese - 0 yes - SSOAOD - ACAN ACAN 1 1 Wenjuan Qiu
00261201 III-17 - - M no China chinese - 0 yes - SSOAOD - ACAN ACAN 1 1 Wenjuan Qiu
Legend   How to query