TaoMedAI/RareMedData huggingface dataset:
Gene: BUB1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: High forehead (HP:0000348)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Triangular face (HP:0000325)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Choanal stenosis (HP:0000452)
Associated disease: MICROCEPHALY 30, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620183)
Gene: BUB1
Phenotype: Wide nose (HP:0000445)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Cataract (HP:0000518)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Tetraplegia (HP:0002445)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Seizure (HP:0001250)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Seizure (HP:0001250)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Micropenis (HP:0000054)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Hypospadias (HP:0000047)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Neoplasm (HP:0002664)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PREMATURE CHROMATID SEPARATION TRAIT (OMIM:176430)
Gene: BUB1B
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Stomach cancer (HP:0012126)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Osteolysis (HP:0002797)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1B
Phenotype: Renal cyst (HP:0000107)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Abnormal lung lobation (HP:0002101)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Apnea (HP:0002104)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Vaginal neoplasm (HP:0100650)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Premature chromatid separation (HP:0200024)
Associated disease: PREMATURE CHROMATID SEPARATION TRAIT (OMIM:176430)
Gene: BUB1B
Phenotype: Premature chromatid separation (HP:0200024)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Intestinal polyposis (HP:0200008)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Cerebral hypoplasia (HP:0006872)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Hypodysplasia of the corpus callosum (HP:0006849)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1B
Phenotype: Nystagmus (HP:0000639)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Leukemia (HP:0001909)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Short stature (HP:0004322)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Short stature (HP:0004322)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Colon cancer (HP:0003003)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Antenatal onset (HP:0030674)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Short nose (HP:0003196)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Short sternum (HP:0000879)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Malar flattening (HP:0000272)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Microcephaly (HP:0000252)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1B
Phenotype: Rhabdomyosarcoma (HP:0002859)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Ascites (HP:0001541)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Triangular mouth (HP:0000207)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Growth delay (HP:0001510)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Low-set ears (HP:0000369)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Long philtrum (HP:0000343)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Subvalvular aortic stenosis (HP:0001682)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: High forehead (HP:0000348)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: High forehead (HP:0000348)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Micrognathia (HP:0000347)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Triangular face (HP:0000325)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Combined immunodeficiency (HP:0005387)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Short neck (HP:0000470)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Wide nose (HP:0000445)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Wide nose (HP:0000445)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1B
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1B
Phenotype: Embryonal rhabdomyosarcoma (HP:0006743)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: BUB1B
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Cataract (HP:0000518)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Cataract (HP:0000518)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Glaucoma (HP:0000501)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: BUB1B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Gene: BUB1B
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: C1QBP
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Cerebral edema (HP:0002181)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Gene: C1QBP
Phenotype: Late onset (HP:0003584)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)