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Osteoglophonic dwarfism
1 OMIM reference -
1 associated gene
52 connected diseases
20 signs/symptoms
Disease Type of connection
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Giant cell glioblastoma
Gliosarcoma
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Myeloid neoplasm associated with FGFR1 rearrangement
Oligodontia
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
Autosomal agammaglobulinemia
SHORT syndrome
Coffin-Lowry syndrome
X-linked non-syndromic intellectual deficit
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
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Budd-Chiari syndrome
Craniopharyngioma
Desmoid tumor
Essential thrombocythemia
Familial gastric cancer
Familial thrombocytosis
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Hypercalcemic tumoral calcinosis
Lethal congenital contracture syndrome type 2
Myelofibrosis with myeloid metaplasia
Pilomatrixoma
Polycythemia vera
Alobar holoprosencephaly
Cherubism
Lobar holoprosencephaly
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Nodulosis-arthropathy-osteolysis syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Torg-Winchester syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Hereditary gingival fibromatosis
Noonan syndrome
Oculootodental syndrome
Otodental syndrome
Autosomal recessive lymphoproliferative disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536050
Gene symbol UniProt reference OMIM reference
FGFR1 P11362136350
Very frequent
- Abnormal vertebral size / shape
- Anodontia / oligodontia / hypodontia
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Hypertelorism
- Short stature / dwarfism / nanism

Frequent
- Anteverted nares / nostrils
- Clavicle absent / abnormal
- Delayed bone age
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Micrognathia / retrognathia / micrognathism / retrognathism
- Prominent / bat ears
- Rhizomelic micromelia

Occasional
- Abnormal / absent ossification
- Choanal atresia
- Inguinal / inguinoscrotal / crural hernia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Scoliosis
- Short hand / brachydactyly
- Undescended / ectopic testes / cryptorchidia / unfixed testes