TaoMedAI/RareMedData huggingface dataset:
Gene: TYROBP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Arthralgia (HP:0002829)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYRP1
Phenotype: Blue nevus (HP:0100814)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Partial albinism (HP:0007443)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE III (OMIM:203290)
Gene: TYRP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE III (OMIM:203290)
Gene: TYRP1
Phenotype: Freckling (HP:0001480)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: White eyelashes (HP:0002227)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: White eyebrow (HP:0002226)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Red hair (HP:0002297)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE III (OMIM:203290)
Gene: TYRP1
Phenotype: Red hair (HP:0002297)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Absent skin pigmentation (HP:0200098)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Albinism (HP:0001022)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE III (OMIM:203290)
Gene: TYRP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE III (OMIM:203290)
Gene: TYRP1
Phenotype: Blue irides (HP:0000635)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Generalized hypopigmentation of hair (HP:0011358)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Optic nerve misrouting (HP:0025551)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Rufous oculocutaneous albinism; Red oculocutaneous albinism; OCA3; Xanthous oculocutaneous albinism; Oculocutaneous albinism type 3 (ORPHA:79433)
Gene: TYRP1
Phenotype: Strabismus (HP:0000486)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE III (OMIM:203290)
Gene: UBB
Phenotype: Language impairment (HP:0002463)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: UBB
Phenotype: Receptive language delay (HP:0010863)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: UBB
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: UBB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: UBB
Phenotype: Abnormal oral cavity morphology (HP:0000163)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: UBB
Phenotype: Cleft lip (HP:0410030)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: UBB
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: UBB
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Nasal dysarthria (HP:0008376)
Associated disease: Bifidity of the uvula; Bifid uvula; Uvular cleft (ORPHA:99771)
Gene: UBB
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: UBB
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: UBB
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: UBB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: UBB
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Submucous cleft palate (HP:5201016)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: UBB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Submucosal cleft palate (ORPHA:155878)
Gene: UBB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBB
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft hard palate (ORPHA:101023)
Gene: UBB
Phenotype: Short face (HP:0011219)
Associated disease: Cleft velum palatinum; Cleft velum; Cleft soft palate (ORPHA:99772)
Gene: UBA1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Anarthria (HP:0002425)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Areflexia (HP:0001284)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Interphalangeal joint contracture of finger (HP:0001220)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Arthritis (HP:0001369)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Micropenis (HP:0000054)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Hypospadias (HP:0000047)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Arteritis (HP:0012089)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Neutrophilic infiltration of the skin (HP:0031234)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Poor suck (HP:0002033)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Potter facies (HP:0002009)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Myopathic facies (HP:0002058)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Middle age onset (HP:0003596)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Nasal chondritis (HP:0033380)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Facial palsy (HP:0010628)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Skin plaque (HP:0200035)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Chondritis of pinna (HP:0200047)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Bone fracture (HP:0020110)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Abnormal anterior horn cell morphology (HP:0006802)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Inflammatory myopathy (HP:0009071)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Thromboembolism (HP:0001907)
Associated disease: VEXAS SYNDROME (OMIM:301054)
Gene: UBA1
Phenotype: Abnormal muscle fiber morphology (HP:0004303)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Short ribs (HP:0000773)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Myopathy (HP:0003198)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)
Gene: UBA1
Phenotype: Cupped ribs (HP:0000887)
Associated disease: Infantile-onset X-linked spinal muscular atrophy; SMAX2; X-linked distal arthrogryposis multiplex congenita; Spinal muscular atrophy with arthrogryposis; X-linked spinal muscular atrophy type 2 (ORPHA:1145)
Gene: UBA1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINAL MUSCULAR ATROPHY, X-LINKED 2 (OMIM:301830)