TaoMedAI/RareMedData huggingface dataset:
Gene: PRR12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Midface retrusion (HP:0011800)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Lens coloboma (HP:0100719)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Distichiasis (HP:0009743)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Hypersomnia (HP:0100786)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Torus palatinus (HP:0100789)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Brittle hair (HP:0002299)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Scapular winging (HP:0003691)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Short uvula (HP:0010812)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Brushfield spots (HP:0001088)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Tibial torsion (HP:0100694)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Blue irides (HP:0000635)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Amblyopia (HP:0000646)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Iris coloboma (HP:0000612)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Peters anomaly (HP:0000659)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Synophrys (HP:0000664)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Short stature (HP:0004322)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Anxiety (HP:0000739)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Stellate iris (HP:0012775)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Hooded upper eyelid (HP:0030822)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Retrognathia (HP:0000278)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Sleep onset insomnia (HP:0031354)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Increased overbite (HP:0011094)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Cupped ear (HP:0000378)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Microcornea (HP:0000482)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Small nail (HP:0001792)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Pes planus (HP:0001763)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Cataract (HP:0000518)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Ptosis (HP:0000508)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Glaucoma (HP:0000501)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Exotropia (HP:0000577)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: PRR12
Phenotype: Myopia (HP:0000545)
Associated disease: NEUROOCULAR SYNDROME 1 (OMIM:619539)
Gene: ARID1B
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Seizure (HP:0001250)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Gastric ulcer (HP:0002592)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Duodenal ulcer (HP:0002588)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Intussusception (HP:0002576)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Hydroureter (HP:0000072)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Hypospadias (HP:0000047)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Prominent interphalangeal joints (HP:0006237)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Coxa valga (HP:0002673)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Wide mouth (HP:0000154)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Gait ataxia (HP:0002066)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Lumbosacral hirsutism (HP:0009747)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Hemangioma (HP:0001028)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Short distal phalanx of the 5th finger (HP:0004227)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Nystagmus (HP:0000639)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Hypotelorism (HP:0000601)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Dry hair (HP:0011359)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Conical tooth (HP:0000698)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Microdontia (HP:0000691)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Short stature (HP:0004322)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Del(6)(q25); Monosomy 6q25; 6q25.2q25.3 microdeletion syndrome (ORPHA:251056)
Gene: ARID1B
Phenotype: Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)
Gene: ARID1B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ARID1B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ARID1B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COFFIN-SIRIS SYNDROME 1 (OMIM:135900)