TaoMedAI/RareMedData huggingface dataset:
Gene: ARID2
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Wormian bones (HP:0002645)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Cleft palate (HP:0000175)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: High, narrow palate (HP:0002705)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Constipation (HP:0002019)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Large forehead (HP:0002003)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Deep philtrum (HP:0002002)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Tics (HP:0100033)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Anxiety (HP:0000739)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Epicanthus (HP:0000286)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Retrognathia (HP:0000278)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Low-set ears (HP:0000369)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: High forehead (HP:0000348)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Micrognathia (HP:0000347)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Short philtrum (HP:0000322)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Strabismus (HP:0000486)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Small nail (HP:0001792)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: COFFIN-SIRIS SYNDROME 6 (OMIM:617808)
Gene: ARID2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Ptosis (HP:0000508)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Oral aversion (HP:0012523)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID2
Phenotype: Myopia (HP:0000545)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: UBR1
Phenotype: Septate vagina (HP:0001153)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Generalized edema (HP:0007430)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Urethrovaginal fistula (HP:0008716)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Aplasia cutis congenita of scalp (HP:0007385)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Death in childhood (HP:0003819)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Anasarca (HP:0012050)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Micropenis (HP:0000054)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hypospadias (HP:0000047)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Severe intrauterine growth retardation (HP:0008846)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Abnormal vagina morphology (HP:0000142)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Agenesis of permanent teeth (HP:0006349)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hypoplasia of the primary teeth (HP:0006334)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Portal hypertension (HP:0001409)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Anal atresia (HP:0002023)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Anal atresia (HP:0002023)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Malabsorption (HP:0002024)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Increased VLDL cholesterol concentration (HP:0003362)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Abnormality of the female genitalia (HP:0010460)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Fair hair (HP:0002286)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Absent lacrimal punctum (HP:0001092)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Conjunctival icterus (HP:0032106)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Anemia (HP:0001903)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Oligodontia (HP:0000677)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Microdontia (HP:0000691)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Short stature (HP:0004322)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Short stature (HP:0004322)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Hypoproteinemia (HP:0003075)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Short nose (HP:0003196)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Primary hypothyroidism (HP:0000832)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Edema (HP:0000969)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Alopecia (HP:0001596)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Ascites (HP:0001541)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Long philtrum (HP:0000343)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Abnormal nostril morphology (HP:0005288)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Strabismus (HP:0000486)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Johanson-Blizzard syndrome; JBS (ORPHA:2315)
Gene: UBR1
Phenotype: Midline skin dimples over anterior/posterior fontanelles (HP:0005498)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: UBR1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: JOHANSON-BLIZZARD SYNDROME (OMIM:243800)
Gene: PATL2
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PATL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OOCYTE MATURATION DEFECT 4 (OMIM:617743)
Gene: PATL2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PATL2
Phenotype: Female infertility (HP:0008222)
Associated disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Gene: PATL2
Phenotype: Female infertility (HP:0008222)
Associated disease: OOCYTE MATURATION DEFECT 4 (OMIM:617743)