TaoMedAI/RareMedData huggingface dataset:
Gene: ACD
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Anemia (HP:0001903)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Generalized hypopigmentation of hair (HP:0011358)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Short stature (HP:0004322)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Short telomere length (HP:0031413)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Microcephaly (HP:0000252)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: ACD
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: ACD
Phenotype: Abnormal leukocyte morphology (HP:0001881)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Gene: ACD
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Gene: TMEM237
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Meningocele (HP:0002435)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Seizure (HP:0001250)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Seizure (HP:0001250)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Seizure (HP:0001250)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Hypotonia (HP:0001252)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Hypotonia (HP:0001252)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Hypotonia (HP:0001252)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Ataxia (HP:0001251)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Ataxia (HP:0001251)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Ataxia (HP:0001251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Urethral atresia (HP:0000068)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Tremor (HP:0001337)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Tremor (HP:0001337)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Scoliosis (HP:0002650)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Scoliosis (HP:0002650)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Scoliosis (HP:0002650)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Open mouth (HP:0000194)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Cleft palate (HP:0000175)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Cleft palate (HP:0000175)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Cleft palate (HP:0000175)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Tachypnea (HP:0002789)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Nephropathy (HP:0000112)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Nephropathy (HP:0000112)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Renal cyst (HP:0000107)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Encephalocele (HP:0002084)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Encephalocele (HP:0002084)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Encephalocele (HP:0002084)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Encephalocele (HP:0002084)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: True hermaphroditism (HP:0010459)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Apnea (HP:0002104)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Apnea (HP:0002104)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Pancreatic fibrosis (HP:0100732)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Anencephaly (HP:0002323)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TMEM237
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Nystagmus (HP:0000639)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)
Gene: TMEM237
Phenotype: Nystagmus (HP:0000639)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: TMEM237
Phenotype: Nystagmus (HP:0000639)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Optic atrophy (HP:0000648)
Associated disease: JOUBERT SYNDROME 14 (OMIM:614424)
Gene: TMEM237
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: TMEM237
Phenotype: Blindness (HP:0000618)
Associated disease: Joubert syndrome with Senior-Loken syndrome; Joubert syndrome with oculorenal defect; JS-OR; Dekaban-Arima syndrome; Arima syndrome; JS type B; CORS; Cerebellooculorenal syndrome (ORPHA:2318)
Gene: TMEM237
Phenotype: Iris coloboma (HP:0000612)
Associated disease: JS-R; Joubert syndrome with renal defect (ORPHA:220497)