TaoMedAI/RareMedData huggingface dataset:
Gene: NAA10
Phenotype: Proptosis (HP:0000520)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Glaucoma (HP:0000501)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Iron deficiency anemia (HP:0001891)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Prominent forehead (HP:0011220)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: NAA10
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Gene: NAA10
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Lenz microphthalmia; Microphthalmia, Lenz type (ORPHA:568)
Gene: NAA10
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: OGDEN SYNDROME (OMIM:300855)
Gene: LAGE3
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Seizure (HP:0001250)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Hypotonia (HP:0001252)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Spasticity (HP:0001257)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Dysmetria (HP:0001310)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Scoliosis (HP:0002650)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Infantile onset (HP:0003593)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Nystagmus (HP:0000639)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Short stature (HP:0004322)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Childhood onset (HP:0011463)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: High palate (HP:0000218)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Micrognathia (HP:0000347)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: LAGE3
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: LAGE3
Phenotype: Esotropia (HP:0000565)
Associated disease: GALLOWAY-MOWAT SYNDROME 2, X-LINKED (OMIM:301006)
Gene: KDM5D
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: KDM5D
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: KDM5D
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: KDM5D
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: USP9Y
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: USP9Y
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: USP9Y
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: USP9Y
Phenotype: Azoospermia (HP:0000027)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: USP9Y
Phenotype: Y-linked inheritance (HP:0001450)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: USP9Y
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: USP9Y
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: USP9Y
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: USP9Y
Phenotype: Male infertility (HP:0003251)
Associated disease: Chromosome Y microdeletion syndrome; Microdeletion of the AZF region on the Y chromosome; Male infertility due to chromosome Y microdeletion (ORPHA:1646)
Gene: USP9Y
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE, Y-LINKED, 2 (OMIM:415000)
Gene: EPX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EOSINOPHIL PEROXIDASE DEFICIENCY (OMIM:261500)
Gene: EPX
Phenotype: Eosinophil nuclear hypersegmentation (HP:0034253)
Associated disease: EOSINOPHIL PEROXIDASE DEFICIENCY (OMIM:261500)
Gene: ARID1A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Seizure (HP:0001250)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Macroglossia (HP:0000158)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Wide mouth (HP:0000154)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Poor suck (HP:0002033)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Absent fifth toenail (HP:0200105)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Absent fifth fingernail (HP:0200104)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Hirsutism (HP:0001007)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: High palate (HP:0000218)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Long philtrum (HP:0000343)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Short philtrum (HP:0000322)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: ARID1A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Gene: ARID1A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)