TaoMedAI/RareMedData huggingface dataset:
Gene: MATN3
Phenotype: Abnormality of the epiphyses of the feet (HP:0010631)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Mild short stature (HP:0003502)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Intervertebral disk degeneration (HP:0008419)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Osteoarthritis of the small joints of the hand (HP:0004268)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Short stature (HP:0004322)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Short stature (HP:0004322)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Premature osteoarthritis (HP:0003088)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Enlarged joints (HP:0003037)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Short long bone (HP:0003026)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Avascular necrosis of the capital femoral epiphysis (HP:0005743)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Posterior rib cupping (HP:0000922)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Decreased hip abduction (HP:0003184)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Multiple small vertebral fractures (HP:0005877)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Knee pain (HP:0030839)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Hip pain (HP:0030838)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Ankle pain (HP:0030840)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Coxa vara (HP:0002812)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Arthralgia (HP:0002829)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Metaphyseal spurs (HP:0005054)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Genu valgum (HP:0002857)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Genu valgum (HP:0002857)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Flat face (HP:0012368)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Flat face (HP:0012368)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Heberden node (HP:0012313)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 2 (OMIM:140600)
Gene: MATN3
Phenotype: Micromelia (HP:0002983)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Femoral bowing (HP:0002980)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Bowing of the legs (HP:0002979)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Genu varum (HP:0002970)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MAX
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Pulsatile tinnitus (HP:0008629)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Panic attack (HP:0025269)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Proteinuria (HP:0000093)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Proteinuria (HP:0000093)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Hypospadias (HP:0000047)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Neoplasm (HP:0002664)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Paraganglioma (HP:0002668)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Tremor (HP:0001337)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Pheochromocytoma (HP:0002666)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Hypertension associated with pheochromocytoma (HP:0002640)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Flushing (HP:0031284)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Renal agenesis (HP:0000104)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Nausea (HP:0002018)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Elevated urinary norepinephrine level (HP:0003345)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Sinus tachycardia (HP:0011703)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Paroxysmal vertigo (HP:0010532)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Positive regitine blocking test (HP:0003574)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Elevated circulating calcitonin concentration (HP:0003528)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Retinal capillary hemangioma (HP:0009711)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Chest pain (HP:0100749)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Elevated urinary dopamine level (HP:0011979)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Hemangioma (HP:0001028)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Recurrent paroxysmal headache (HP:0002331)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Hypertensive retinopathy (HP:0001095)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Perianal abscess (HP:0009789)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Elevated urinary epinephrine level (HP:0003639)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Palpitations (HP:0001962)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Renal artery stenosis (HP:0001920)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Episodic paroxysmal anxiety (HP:0000740)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Autistic behavior (HP:0000729)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Hematuria (HP:0000790)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Episodic hypertension (HP:0000875)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Thoracic platyspondyly (HP:0004592)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: PHEOCHROMOCYTOMA (OMIM:171300)
Gene: MAX
Phenotype: Macrocephaly (HP:0000256)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Arachnoid hemangiomatosis (HP:0012222)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Paraganglioma of head and neck (HP:0002864)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Fatigue (HP:0012378)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Gene: MAX
Phenotype: Exudative retinopathy (HP:0007898)
Associated disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Gene: MAX
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)