TaoMedAI/RareMedData huggingface dataset:
Gene: MPC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Organic aciduria (HP:0001992)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: MPC1
Phenotype: Long philtrum (HP:0000343)
Associated disease: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY (OMIM:614741)
Gene: ZFR
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: EMG abnormality (HP:0003457)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Hand tremor (HP:0002378)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: ZFR
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: SPG71; Autosomal recessive spastic paraplegia type 71 (ORPHA:401840)
Gene: SUFU
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
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: SUFU
Phenotype: Cyclopia (HP:0009914)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Molar tooth sign on MRI (HP:0002419)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Nevus (HP:0003764)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
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: SUFU
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Syncope (HP:0001279)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Seizure (HP:0001250)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Seizure (HP:0001250)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
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: SUFU
Phenotype: Hypotonia (HP:0001252)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
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: SUFU
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: SUFU
Phenotype: Ataxia (HP:0001251)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Ataxia (HP:0001251)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
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: SUFU
Phenotype: Dysarthria (HP:0001260)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
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: SUFU
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
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: SUFU
Phenotype: Chromosomal breakage induced by ionizing radiation (HP:0010997)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
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: SUFU
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Brain stem compression (HP:0002512)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: SUFU
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: SUFU
Phenotype: Tall stature (HP:0000098)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
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: SUFU
Phenotype: Neoplasm (HP:0002664)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: SUFU
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: SUFU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: SUFU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: SUFU
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: SUFU
Phenotype: Scoliosis (HP:0002650)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Scoliosis (HP:0002650)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
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: SUFU
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Cleft palate (HP:0000175)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Amenorrhea (HP:0000141)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Solitary median maxillary central incisor (HP:0006315)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
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: SUFU
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: SUFU
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Frontal bossing (HP:0002007)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Frontal bossing (HP:0002007)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
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: SUFU
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: SUFU
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Asthma (HP:0002099)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Migraine (HP:0002076)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Neoplasm of the posterior pituitary (HP:0011752)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Neoplasm of the anterior pituitary (HP:0011750)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal central sensory function (HP:0011730)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
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: SUFU
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
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: SUFU
Phenotype: Back pain (HP:0003418)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Odontogenic keratocysts of the jaw (HP:0010603)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Secondary growth hormone deficiency (HP:0008240)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Pituitary hypothyroidism (HP:0008245)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Hypothalamic hypothyroidism (HP:0008237)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Transient global amnesia (HP:0010534)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Reduced circulating prolactin concentration (HP:0008202)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
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: SUFU
Phenotype: Congenital onset (HP:0003577)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Congenital onset (HP:0003577)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Adult onset (HP:0003581)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Adult onset (HP:0003581)
Associated disease: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:607174)
Gene: SUFU
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: SUFU
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: JOUBERT SYNDROME 32 (OMIM:617757)
Gene: SUFU
Phenotype: Midnasal stenosis (HP:0010644)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Facial palsy (HP:0010628)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Ovarian fibroma (HP:0010618)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Cardiac fibroma (HP:0010617)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Angiofibromas (HP:0010615)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Palmar pits (HP:0010610)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Palmar pits (HP:0010610)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Plantar pits (HP:0010612)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Plantar pits (HP:0010612)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Neurofibroma (HP:0001067)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Neurofibroma (HP:0001067)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Hemangioma (HP:0001028)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Memory impairment (HP:0002354)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Vertigo (HP:0002321)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Headache (HP:0002315)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Neoplasm of the tongue (HP:0100648)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Trigeminal neuralgia (HP:0100661)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Papule (HP:0200034)
Associated disease: BASAL CELL NEVUS SYNDROME 2 (OMIM:620343)
Gene: SUFU
Phenotype: Hemifacial spasm (HP:0010828)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Holoprosencephaly, minor form; HPE-L; Microform HPE; Microform holoprosencephaly; HPE, minor form; Holoprosencephaly-like (ORPHA:280200)
Gene: SUFU
Phenotype: Papilledema (HP:0001085)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: SUFU
Phenotype: Bitemporal hemianopia (HP:0030521)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
Phenotype: Visual acuity test abnormality (HP:0030532)
Associated disease: Meningioma (ORPHA:2495)
Gene: SUFU
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)