TaoMedAI/RareMedData huggingface dataset:
Gene: MAFB
Phenotype: Wrist swelling (HP:0001225)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Wrist swelling (HP:0001225)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Inability to walk (HP:0002540)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Proteinuria (HP:0000093)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Proteinuria (HP:0000093)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Osteolysis involving tarsal bones (HP:0006234)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS (OMIM:617041)
Gene: MAFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Absent radius (HP:0003974)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Carpal osteolysis (HP:0001495)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Carpal osteolysis (HP:0001495)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Metatarsal osteolysis (HP:0001473)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Osteolysis (HP:0002797)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Bilateral elbow dislocations (HP:0005021)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Nephropathy (HP:0000112)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Infantile onset (HP:0003593)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Nystagmus (HP:0000639)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Impaired ocular abduction (HP:0000634)
Associated disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS (OMIM:617041)
Gene: MAFB
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Amblyopia (HP:0000646)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Blepharospasm (HP:0000643)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Iris coloboma (HP:0000612)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Abnormal pupil morphology (HP:0000615)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Narrow internal auditory canal (HP:0011386)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Patchy hypopigmentation of hair (HP:0011365)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Palpebral fissure narrowing on adduction (HP:0000661)
Associated disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS (OMIM:617041)
Gene: MAFB
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Cachexia (HP:0004326)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Abnormal vertebral segmentation and fusion (HP:0005640)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Abnormality of the wrist (HP:0003019)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Childhood onset (HP:0011463)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Young adult onset (HP:0011462)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Slender long bone (HP:0003100)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Hypertension (HP:0000822)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Wrist pain (HP:0030836)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Ankle pain (HP:0030840)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Gustatory lacrimation (HP:0100274)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Osteopenia (HP:0000938)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Oculomotor nerve palsy (HP:0012246)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Optic disc hypoplasia (HP:0007766)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Arthralgia (HP:0002829)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Metacarpal osteolysis (HP:0001504)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Metacarpal osteolysis (HP:0001504)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Central heterochromia (HP:0007818)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Camptodactyly (HP:0012385)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DUANE RETRACTION SYNDROME 3 WITH OR WITHOUT DEAFNESS (OMIM:617041)
Gene: MAFB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Micrognathia (HP:0000347)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Micrognathia (HP:0000347)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Micrognathia (HP:0000347)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Triangular face (HP:0000325)
Associated disease: Idiopathic multicentric osteolysis with or without nephropathy; Multicentric carpo-tarsal osteolysis with or without nephropathy (ORPHA:2774)
Gene: MAFB
Phenotype: Triangular face (HP:0000325)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAFB
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Hypoplastic iris stroma (HP:0007990)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Strabismus (HP:0000486)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Microcornea (HP:0000482)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Ankle swelling (HP:0001785)
Associated disease: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (OMIM:166300)
Gene: MAFB
Phenotype: Short neck (HP:0000470)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Webbed neck (HP:0000465)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)
Gene: MAFB
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MAFB
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DURS; DRS; Stilling-Turk-Duane syndrome; Duane syndrome; Duane retraction syndrome (ORPHA:233)