TaoMedAI/RareMedData huggingface dataset:
Gene: BTK
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Cellulitis (HP:0100658)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Fever (HP:0001945)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Anemia (HP:0001903)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Anemia (HP:0001903)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Short stature (HP:0004322)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Short stature (HP:0004322)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Childhood onset (HP:0011463)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Agammaglobulinemia (HP:0004432)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Septic arthritis (HP:0003095)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Septic arthritis (HP:0003095)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Delayed puberty (HP:0000823)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Wheezing (HP:0030828)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Pyoderma (HP:0000999)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Pyoderma (HP:0000999)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Skin rash (HP:0000988)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Alopecia (HP:0001596)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Sinusitis (HP:0000246)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Sinusitis (HP:0000246)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Fatigue (HP:0012378)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Absent circulating B cells (HP:0030252)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Weight loss (HP:0001824)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BTK
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Gene: BTK
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: BTK
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: BTK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Bruton type agammaglobulinemia; X-linked agammaglobulinemia; BTK-deficiency (ORPHA:47)
Gene: BTK
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Gene: BUB1
Phenotype: Fetal distress (HP:0025116)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Seizure (HP:0001250)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Neoplasm (HP:0002664)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Osteolysis (HP:0002797)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Apnea (HP:0002104)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Short stature (HP:0004322)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Colon cancer (HP:0003003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Ascites (HP:0001541)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Growth delay (HP:0001510)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)