TaoMedAI/RareMedData huggingface dataset:
Gene: MPLKIP
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Woolly hair (HP:0002224)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Abnormality of hair texture (HP:0010719)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Nystagmus (HP:0000639)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Optic atrophy (HP:0000648)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Short nose (HP:0003196)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Epicanthus (HP:0000286)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Retrognathia (HP:0000278)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Concave nail (HP:0001598)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Microcephaly (HP:0000252)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Growth delay (HP:0001510)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Macrotia (HP:0000400)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Microcornea (HP:0000482)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Small nail (HP:0001792)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Gene: MPLKIP
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: MPLKIP
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: CIBAR1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A9 (OMIM:618219)
Gene: CIBAR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A9 (OMIM:618219)
Gene: CIBAR1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A9 (OMIM:618219)
Gene: VPS37A
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Limb dystonia (HP:0002451)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Clonus (HP:0002169)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Clonus (HP:0002169)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Kyphosis (HP:0002808)
Associated disease: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
Gene: VPS37A
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: VPS37A
Phenotype: Abnormal auditory canal morphology (HP:0000372)
Associated disease: SPG53; Autosomal recessive spastic paraplegia type 53 (ORPHA:319199)
Gene: NDUFAF6
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Dysarthria (HP:0001260)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Thick hair (HP:0100874)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Proteinuria (HP:0000093)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Bone pain (HP:0002653)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Basal ganglia necrosis (HP:0012128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: High, narrow palate (HP:0002705)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Renal phosphate wasting (HP:0000117)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Emphysema (HP:0002097)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Rigidity (HP:0002063)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Proximal renal tubular acidosis (HP:0002049)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Hypophosphatemia (HP:0002148)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Hypouricemia (HP:0003537)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Developmental regression (HP:0002376)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Bicarbonaturia (HP:0003646)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Hyperchloremic metabolic acidosis (HP:0004918)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Hypophosphatemic rickets (HP:0004912)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Bicarbonate-wasting renal tubular acidosis (HP:0004910)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Renal sodium wasting (HP:0012606)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Dehydration (HP:0001944)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Glycosuria (HP:0003076)
Associated disease: FANCONI RENOTUBULAR SYNDROME 5 (OMIM:618913)
Gene: NDUFAF6
Phenotype: Glycosuria (HP:0003076)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Increased urinary potassium (HP:0003081)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)
Gene: NDUFAF6
Phenotype: Low-molecular-weight proteinuria (HP:0003126)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Hyperuricosuria (HP:0003149)
Associated disease: Primary Fanconi renal syndrome; Primary Fanconi renotubular syndrome; DeToni-Debré-Fanconi syndrome (ORPHA:3337)
Gene: NDUFAF6
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 (OMIM:618239)