TaoMedAI/RareMedData huggingface dataset:
Gene: SRRM2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Obesity (HP:0001513)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Short neck (HP:0000470)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: SRRM2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 72 (OMIM:620439)
Gene: CLCF1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Seizure (HP:0001250)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Cold-induced sweating (HP:0025278)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Malignant hyperthermia (HP:0002047)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Large face (HP:0100729)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Full cheeks (HP:0000293)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: High palate (HP:0000218)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: High palate (HP:0000218)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Death in infancy (HP:0001522)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: CLCF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Wide nose (HP:0000445)
Associated disease: Crisponi syndrome (ORPHA:1545)
Gene: CLCF1
Phenotype: Protruding ear (HP:0000411)
Associated disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Gene: NNT
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Seizure (HP:0001250)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Generalized hyperpigmentation (HP:0007440)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Impaired cortisol response to insulin stimulation test (HP:0031076)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Azoospermia (HP:0000027)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Hypotension (HP:0002615)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Testicular adrenal rest tumor (HP:0025451)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Renal salt wasting (HP:0000127)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Decreased circulating dehydroepiandrosterone concentration (HP:0031214)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Constipation (HP:0002019)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Diarrhea (HP:0002014)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Vomiting (HP:0002013)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Anorexia (HP:0002039)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Decreased circulating cortisol level (HP:0008163)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hyperkalemia (HP:0002153)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Leydig cell neoplasia (HP:0100618)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hypernatriuria (HP:0012605)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Decreased circulating aldosterone concentration (HP:0004319)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Ketotic hypoglycemia (HP:0012734)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Increased circulating ACTH level (HP:0003154)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Adrenal insufficiency (HP:0000846)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Precocious puberty (HP:0000826)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Abnormal circulating renin concentration (HP:0040084)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Abnormal circulating aldosterone concentration (HP:0040085)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Abnormal circulating adrenocorticotropin concentration (HP:0011043)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hyponatremia (HP:0002902)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hyponatremia (HP:0002902)
Associated disease: GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY (OMIM:614736)
Gene: NNT
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Chronic fatigue (HP:0012432)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: NNT
Phenotype: Weight loss (HP:0001824)
Associated disease: Familial glucocorticoid deficiency (ORPHA:361)
Gene: PIK3R5
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Areflexia (HP:0001284)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Areflexia (HP:0001284)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Ataxia (HP:0001251)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Ataxia (HP:0001251)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Dysarthria (HP:0001260)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Dystonia (HP:0001332)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Muscle weakness (HP:0001324)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Dysmetria (HP:0001310)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Dysphagia (HP:0002015)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Postural tremor (HP:0002174)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Frequent falls (HP:0002359)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Progressive (HP:0003676)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Head tremor (HP:0002346)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Nystagmus (HP:0000639)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Strabismus (HP:0000486)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: PIK3R5
Phenotype: Early young adult onset (HP:0025708)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: PIK3R5
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Gene: TNPO3
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Xanthelasma (HP:0001114)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Pelvic girdle muscle weakness (HP:0003749)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Autophagic vacuoles (HP:0003736)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Rimmed vacuoles (HP:0003805)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Hepatic failure (HP:0001399)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Biliary cirrhosis (HP:0002613)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Celiac disease (HP:0002608)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Hepatitis (HP:0012115)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Portal hypertension (HP:0001409)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Dysphagia (HP:0002015)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Esophageal varix (HP:0002040)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Primary biliary cirrhosis; Hanot syndrome; Primary biliary cholangitis; PBC (ORPHA:186)
Gene: TNPO3
Phenotype: Adult onset (HP:0003581)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)
Gene: TNPO3
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 2 (OMIM:608423)