TaoMedAI/RareMedData huggingface dataset:
Gene: QRSL1
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Anemia (HP:0001903)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Premature birth (HP:0001622)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: QRSL1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 (OMIM:618835)
Gene: CWF19L1
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Slurred speech (HP:0001350)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Abnormality of the distal phalanx of the thumb (HP:0009617)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Clumsiness (HP:0002312)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Synophrys (HP:0000664)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Synophrys (HP:0000664)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Monotonic speech (HP:0031435)
Associated disease: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency; Spinocerebellar ataxia autosomal recessive type 17; SCAR17 (ORPHA:453521)
Gene: CWF19L1
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: CWF19L1
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17 (OMIM:616127)
Gene: FBXW7
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Specific learning disability (HP:0001328)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Constipation (HP:0002019)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Developmental regression (HP:0002376)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Astigmatism (HP:0000483)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: FBXW7
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE (OMIM:620012)
Gene: CCDC91
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Fragmented elastic fibers in the dermis (HP:0025167)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Palmar hyperhidrosis (HP:0006089)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Skin plaque (HP:0200035)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Hyperkeratotic papule (HP:0045059)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Palmoplantar hyperkeratosis (HP:0000972)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Orthokeratosis (HP:0040162)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Abnormality of the lower limb (HP:0002814)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Piezogenic pedal papules (HP:0025509)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Yellow papule (HP:0025507)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: CCDC91
Phenotype: Granulomatosis (HP:0002955)
Associated disease: AKE; Punctate palmoplantar hyperkeratosis type 3; Acrokeratoelastoidosis of Costa; Punctate palmoplantar keratoderma type 3; PPKP3 (ORPHA:38)
Gene: SLC29A3
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Pancreatic hypoplasia (HP:0002594)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Cervical lymphadenopathy (HP:0025289)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Micropenis (HP:0000054)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Micropenis (HP:0000054)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Azoospermia (HP:0000027)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Azoospermia (HP:0000027)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Varicose veins (HP:0002619)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Varicose veins (HP:0002619)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Amenorrhea (HP:0000141)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hypogonadism (HP:0000135)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Osteolysis (HP:0002797)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Malabsorption (HP:0002024)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: Dysosteosclerosis (ORPHA:1782)
Gene: SLC29A3
Phenotype: Episcleritis (HP:0100534)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Hypertrichotic hyperpigmented patch (HP:0033190)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Gene: SLC29A3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC29A3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC29A3
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: H syndrome (ORPHA:168569)
Gene: SLC29A3
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: H syndrome (ORPHA:168569)