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Primary biliary cirrhosis
5 OMIM references -
8 associated genes
66 connected diseases
No signs/symptoms info
Disease Type of connection
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Autosomal dominant limb-girdle muscular dystrophy type 1F
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Behçet disease
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Takayasu arteritis
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Precursor T-cell acute lymphoblastic leukemia
Spinocerebellar ataxia type 17
Pyogenic bacterial infections due to MyD88 deficiency
Waldenström macroglobulinemia
Autosomal dominant popliteal pterygium syndrome
Autosomal recessive primary microcephaly
Oligodontia
Seckel syndrome
Van der Woude syndrome
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Williams syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Herpetic encephalitis
Acute myeloid leukemia
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
Athyreosis
Behavioral variant of frontotemporal dementia
Burkitt lymphoma
Colobomatous microphthalmia
Combined oxidative phosphorylation defect type 17
Congenital bilateral absence of vas deferens
Craniosynostosis, Boston type
Cystic fibrosis
Deafness - lymphedema - leukemia
Familial prostate cancer
Giant cell glioblastoma
Gliosarcoma
Glycogen storage disease due to aldolase A deficiency
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated anophthalmia - microphthalmia
Male infertility with normal virilization due to meiosis defect
Monocytopenia with susceptibility to infections
Myelodysplastic syndromes
Parietal foramina
Parietal foramina with cleidocranial dysplasia
Progressive non-fluent aphasia
Semantic dementia
Septo-optic dysplasia
Spastic paraplegia - Paget disease of bone
Thyroid hypoplasia
Familial retinoblastoma
Juvenile rheumatoid factor-negative polyarthritis
Monosomy 13q14
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Unilateral retinoblastoma
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Angelman syndrome
Synonym(s):
- Hanot syndrome
Classification (Orphanet):
- Rare hepatic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
5 OMIM references -
No MeSH references
No signs/symptoms info available.