TaoMedAI/RareMedData huggingface dataset:
Gene: SPG11
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Psychosis (HP:0000709)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Atypical behavior (HP:0000708)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Young adult onset (HP:0011462)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Knee clonus (HP:0011449)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Upper-limb joint contracture (HP:0100360)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Abnormal substantia nigra morphology (HP:0045007)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Microcephaly (HP:0000252)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Overweight (HP:0025502)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Obesity (HP:0001513)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Obesity (HP:0001513)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Visual impairment (HP:0000505)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Visual impairment (HP:0000505)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: ARMC9
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Seizure (HP:0001250)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
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: ARMC9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
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: ARMC9
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: ARMC9
Phenotype: Micropenis (HP:0000054)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
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: ARMC9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Tachypnea (HP:0002789)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
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: ARMC9
Phenotype: Polydactyly (HP:0010442)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Apnea (HP:0002104)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Superior cerebellar dysplasia (HP:0020185)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
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: ARMC9
Phenotype: Iris coloboma (HP:0000612)
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: ARMC9
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Oculomotor apraxia (HP:0000657)
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: ARMC9
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: ARMC9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Biparietal narrowing (HP:0004422)
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: ARMC9
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
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: ARMC9
Phenotype: Long face (HP:0000276)
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: ARMC9
Phenotype: Hydrocephalus (HP:0000238)
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: ARMC9
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: High palate (HP:0000218)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Episodic tachypnea (HP:0002876)
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: ARMC9
Phenotype: Orofacial cleft (HP:0000202)
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: ARMC9
Phenotype: Situs inversus totalis (HP:0001696)
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: ARMC9
Phenotype: Low-set ears (HP:0000369)
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: ARMC9
Phenotype: Micrognathia (HP:0000347)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Strabismus (HP:0000486)
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: ARMC9
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Anteverted nares (HP:0000463)
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: ARMC9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Prominent nasal bridge (HP:0000426)
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: ARMC9
Phenotype: Foot polydactyly (HP:0001829)
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: ARMC9
Phenotype: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Ptosis (HP:0000508)
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: ARMC9
Phenotype: Coloboma (HP:0000589)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ARMC9
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JOUBERT SYNDROME 30 (OMIM:617622)
Gene: ALPK1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Migraine (HP:0002076)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Urticaria (HP:0001025)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Anhidrosis (HP:0000970)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Visual loss (HP:0000572)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALPK1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME (OMIM:614979)
Gene: ALPK1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP43
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Gene: CFAP43
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Gene: CFAP43
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Gene: CFAP43
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)
Gene: CFAP43
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Gene: CFAP43
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Gene: CFAP43
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)
Gene: CFAP43
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)
Gene: CFAP43
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)
Gene: CFAP43
Phenotype: Normal pressure hydrocephalus (HP:0002343)
Associated disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Gene: CFAP43
Phenotype: Dementia (HP:0000726)
Associated disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Gene: CFAP43
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)
Gene: CFAP43
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)