TaoMedAI/RareMedData huggingface dataset:
Gene: FKRP
Phenotype: Myopia (HP:0000545)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Gene: FA2H
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Eye of the tiger anomaly of globus pallidus (HP:0002454)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Visual field defect (HP:0001123)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Expressive aphasia (HP:0002427)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Anarthria (HP:0002425)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Dysarthria (HP:0001260)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Falls (HP:0002527)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Dysphagia (HP:0002015)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Pollakisuria (HP:0100515)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Enuresis nocturna (HP:0010677)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Pontocerebellar atrophy (HP:0006879)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Positional foot deformity (HP:0005656)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Dysmyelinating leukodystrophy (HP:0006978)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Anxiety (HP:0000739)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Depression (HP:0000716)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Color vision test abnormality (HP:0030584)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Kyphosis (HP:0002808)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Strabismus (HP:0000486)
Associated disease: Fatty acid hydroxylase-associated neurodegeneration; FAHN (ORPHA:329308)
Gene: FA2H
Phenotype: Strabismus (HP:0000486)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: FA2H
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Autosomal recessive spastic paraplegia type 35; SPG35 (ORPHA:171629)
Gene: FA2H
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
Gene: GNPTAB
Phenotype: Split hand (HP:0001171)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Poor speech (HP:0002465)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Expressive language delay (HP:0002474)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Poor head control (HP:0002421)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hypertonia (HP:0001276)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Motor delay (HP:0001270)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Telangiectases of the cheeks (HP:0007421)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Inability to walk (HP:0002540)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Death in childhood (HP:0003819)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Keratan sulfate excretion in urine (HP:0012069)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Flexion contracture (HP:0001371)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Joint stiffness (HP:0001387)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Large sella turcica (HP:0002690)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Decreased movement range in interphalangeal joints (HP:0006203)
Associated disease: N-acetylglucosamine 1-phosphotransferase deficiency; Mucolipidosis type II alpha/beta; I-cell disease; Mucolipidosis type II (ORPHA:576)
Gene: GNPTAB
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Soft tissue swelling of interphalangeal joints (HP:0006162)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Specific learning disability (HP:0001328)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Coxa valga (HP:0002673)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Bone pain (HP:0002653)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GNPTAB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: ML III alpha/beta; Mucolipidosis type III alpha/beta; Mucolipidosis type 3 alpha/beta; ML 3 alpha/beta (ORPHA:423461)
Gene: GNPTAB
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GNPTAB
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Gene: GNPTAB
Phenotype: Carpal bone hypoplasia (HP:0001498)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Gene: GNPTAB
Phenotype: Macroglossia (HP:0000158)
Associated disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)