TaoMedAI/RareMedData huggingface dataset:
Gene: CCND1
Phenotype: Weight loss (HP:0001824)
Associated disease: Kahler disease; Multiple myeloma; Medullary plasmacytoma; Plasma cell myeloma; Myelomatosis (ORPHA:29073)
Gene: CCND1
Phenotype: Visual loss (HP:0000572)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Endolymphatic sac tumor (HP:0030393)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: CCND1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: VHL; Von Hippel-Lindau syndrome; Von Hippel-Lindau disease; Lindau disease; Familial cerebelloretinal angiomatosis (ORPHA:892)
Gene: BCL2
Phenotype: Meningitis (HP:0001287)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Mediastinal mass (HP:0033823)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Lymphoma (HP:0002665)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Lymphedema (HP:0001004)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Skin nodule (HP:0200036)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Fever (HP:0001945)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Ascites (HP:0001541)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Fatigue (HP:0012378)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Night sweats (HP:0030166)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL2
Phenotype: Weight loss (HP:0001824)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Meningitis (HP:0001287)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Abnormal peritoneum morphology (HP:0002585)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Mediastinal mass (HP:0033823)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Lymphoma (HP:0002665)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Pleural effusion (HP:0002202)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Mediastinal lymphadenopathy (HP:0100721)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Lymphedema (HP:0001004)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Skin nodule (HP:0200036)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Fever (HP:0001945)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Ascites (HP:0001541)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Fatigue (HP:0012378)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Night sweats (HP:0030166)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: BCL6
Phenotype: Weight loss (HP:0001824)
Associated disease: Follicular lymphoma (ORPHA:545)
Gene: HCN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 2 (OMIM:602477)
Gene: HCN2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 2 (OMIM:602477)
Gene: HCN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 2 (OMIM:602477)
Gene: HCN2
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 2 (OMIM:602477)
Gene: HCN2
Phenotype: Atonic seizure (HP:0010819)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 2 (OMIM:602477)
Gene: HCN2
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: FEBRILE SEIZURES, FAMILIAL, 2 (OMIM:602477)
Gene: OPN1SW
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Congenital tritanopia; Tritanopia; Blue colour blindness; Tritan colour blindness (ORPHA:88629)
Gene: OPN1SW
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TRITANOPIA (OMIM:190900)
Gene: OPN1SW
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital tritanopia; Tritanopia; Blue colour blindness; Tritan colour blindness (ORPHA:88629)
Gene: OPN1SW
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: TRITANOPIA (OMIM:190900)
Gene: OPN1SW
Phenotype: Abnormal light-adapted electroretinogram (HP:0008275)
Associated disease: TRITANOPIA (OMIM:190900)
Gene: OPN1SW
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Photophobia (HP:0000613)
Associated disease: Congenital tritanopia; Tritanopia; Blue colour blindness; Tritan colour blindness (ORPHA:88629)
Gene: OPN1SW
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Color vision test abnormality (HP:0030584)
Associated disease: Congenital tritanopia; Tritanopia; Blue colour blindness; Tritan colour blindness (ORPHA:88629)
Gene: OPN1SW
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Congenital tritanopia; Tritanopia; Blue colour blindness; Tritan colour blindness (ORPHA:88629)
Gene: OPN1SW
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Tritanomaly (HP:0000552)
Associated disease: TRITANOPIA (OMIM:190900)
Gene: OPN1SW
Phenotype: Tritanomaly (HP:0000552)
Associated disease: Congenital tritanopia; Tritanopia; Blue colour blindness; Tritan colour blindness (ORPHA:88629)
Gene: OPN1SW
Phenotype: Color vision defect (HP:0000551)
Associated disease: TRITANOPIA (OMIM:190900)
Gene: OPN1SW
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1SW
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: BCR
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Language impairment (HP:0002463)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Seizure (HP:0001250)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: BCR
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Neoplasm (HP:0002664)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Coxa valga (HP:0002673)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Cleft palate (HP:0000175)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: BCR
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, CHRONIC MYELOID (OMIM:608232)
Gene: BCR
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Ulnar deviation of finger (HP:0009465)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Reduced leukocyte alkaline phosphatase (HP:0004852)
Associated disease: LEUKEMIA, CHRONIC MYELOID (OMIM:608232)
Gene: BCR
Phenotype: Ph-positive acute lymphoblastic leukemia (HP:0004848)
Associated disease: LEUKEMIA, CHRONIC MYELOID (OMIM:608232)
Gene: BCR
Phenotype: Branchial fistula (HP:0009795)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Chronic myelogenous leukemia (HP:0005506)
Associated disease: LEUKEMIA, CHRONIC MYELOID (OMIM:608232)
Gene: BCR
Phenotype: Short palm (HP:0004279)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Myeloproliferative disorder (HP:0005547)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Fever (HP:0001945)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Abnormal granulocyte morphology (HP:0001911)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Abnormal basophil morphology (HP:0001912)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Short stature (HP:0004322)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Poor appetite (HP:0004396)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Tics (HP:0100033)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Depression (HP:0000716)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Long face (HP:0000276)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Malar flattening (HP:0000272)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Growth delay (HP:0001510)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Fatigue (HP:0012378)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Abnormal earlobe morphology (HP:0000363)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Premature birth (HP:0001622)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Pointed chin (HP:0000307)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Pes planus (HP:0001763)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: BCR
Phenotype: Sandal gap (HP:0001852)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Absent toenail (HP:0001802)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Absent fingernail (HP:0001817)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Distal 22q11.2 microdeletion syndrome; Distal monosomy 22q11.2; Distal del(22)(q11.2) (ORPHA:261330)
Gene: BCR
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCR
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Chronic myelogenous leukemia; CML; Chronic granulocytic leukemia; Chronic myeloid leukemia (ORPHA:521)
Gene: BCS1L
Phenotype: Pili torti (HP:0003777)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Pili torti (HP:0003777)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BJORNSTAD SYNDROME (OMIM:262000)
Gene: BCS1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Spasticity (HP:0001257)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Hearing loss-pili torti-hypogonadism syndrome; Björnstad syndrome; Deafness-pili torti-hypogonadism syndrome (ORPHA:123)
Gene: BCS1L
Phenotype: Neonatal death (HP:0003811)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 (OMIM:124000)
Gene: BCS1L
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Fellman disease; GRACILE syndrome; Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome (ORPHA:53693)
Gene: BCS1L
Phenotype: Cholestasis (HP:0001396)
Associated disease: GRACILE SYNDROME (OMIM:603358)