TaoMedAI/RareMedData huggingface dataset:
Gene: AUTS2
Phenotype: Proptosis (HP:0000520)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: AUTS2 syndrome; ASD due to AUTS2 deficiency; Autism spectrum disorder due to AUTS2 deficiency (ORPHA:352490)
Gene: AUTS2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: AUTS2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Gene: ANKRD17
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: High anterior hairline (HP:0009890)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Motor delay (HP:0001270)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Seizure (HP:0001250)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Cleft palate (HP:0000175)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Cleft lip (HP:0410030)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Midface retrusion (HP:0011800)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: EEG abnormality (HP:0002353)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Short stature (HP:0004322)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Short philtrum (HP:0000322)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Triangular face (HP:0000325)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Strabismus (HP:0000486)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Flared nostrils (HP:0000454)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: ANKRD17
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CHOPRA-AMIEL-GORDON SYNDROME (OMIM:619504)
Gene: GIGYF2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
Gene: GIGYF2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
Gene: GIGYF2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
Gene: GIGYF2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
Gene: GIGYF2
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Gliosis (HP:0002171)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Postural instability (HP:0002172)
Associated disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
Gene: GIGYF2
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Impulsivity (HP:0100710)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Resting tremor (HP:0002322)
Associated disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
Gene: GIGYF2
Phenotype: Resting tremor (HP:0002322)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Akinesia (HP:0002304)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Orthostatic hypotension due to autonomic dysfunction (HP:0004926)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Diplopia (HP:0000651)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Low frustration tolerance (HP:0000744)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Apathy (HP:0000741)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Depression (HP:0000716)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Agitation (HP:0000713)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Hyposmia (HP:0004409)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Lewy bodies (HP:0100315)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Hypomimic face (HP:0000338)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Spastic/hyperactive bladder (HP:0005340)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: GIGYF2
Phenotype: Weight loss (HP:0001824)
Associated disease: Autosomal dominant late-onset Parkinson disease; LOPD; Hereditary late-onset Parkinson disease (ORPHA:411602)
Gene: APPL1
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Hepatocellular adenoma (HP:0012028)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (OMIM:616511)
Gene: APPL1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Nephropathy (HP:0000112)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Renal cyst (HP:0000107)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Transient neonatal diabetes mellitus (HP:0008255)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Middle age onset (HP:0003596)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (OMIM:616511)
Gene: APPL1
Phenotype: Abnormal oral glucose tolerance (HP:0004924)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Maturity-onset diabetes of the young (HP:0004904)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (OMIM:616511)
Gene: APPL1
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Glycosuria (HP:0003076)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Young adult onset (HP:0011462)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (OMIM:616511)
Gene: APPL1
Phenotype: Abnormal circulating C-peptide concentration (HP:0030794)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (OMIM:616511)
Gene: APPL1
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Elevated hemoglobin A1c (HP:0040217)
Associated disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14 (OMIM:616511)
Gene: APPL1
Phenotype: Hypoinsulinemia (HP:0040216)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Overweight (HP:0025502)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Obesity (HP:0001513)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: APPL1
Phenotype: Retinopathy (HP:0000488)
Associated disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Gene: CFAP61
Phenotype: Bent sperm flagella (HP:0034811)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: CFAP61
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 84 (OMIM:620409)
Gene: ABHD12
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Ataxia (HP:0001251)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Dysarthria (HP:0001260)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Spasticity (HP:0001257)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Dysmetria (HP:0001310)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Intention tremor (HP:0002080)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Babinski sign (HP:0003487)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Slowly progressive (HP:0003677)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Nystagmus (HP:0000639)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Optic atrophy (HP:0000648)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Childhood onset (HP:0011463)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Young adult onset (HP:0011462)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Pes cavus (HP:0001761)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Cataract (HP:0000518)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Subcapsular cataract (HP:0000523)
Associated disease: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT (OMIM:612674)
Gene: ABHD12
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ABHD12
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: TOR1AIP1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)
Gene: TOR1AIP1
Phenotype: Decreased forced expiratory flow 25-75% (HP:0032359)
Associated disease: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES (OMIM:617072)