TaoMedAI/RareMedData huggingface dataset:
Gene: MARS1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Cough (HP:0012735)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Sparse hair (HP:0008070)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE (OMIM:619692)
Gene: MARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: High palate (HP:0000218)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Growth delay (HP:0001510)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Abnormal pulmonary interstitial morphology (HP:0006530)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Hand muscle weakness (HP:0030237)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U (OMIM:616280)
Gene: MARS1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: SPG70; Autosomal recessive spastic paraplegia type 70 (ORPHA:401835)
Gene: MARS1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE (OMIM:620323)
Gene: MARS1
Phenotype: Hypoxemia (HP:0012418)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MARS1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: INTERSTITIAL LUNG AND LIVER DISEASE (OMIM:615486)
Gene: MAT1A
Phenotype: CNS demyelination (HP:0007305)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Halitosis (HP:0100812)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Dystonia (HP:0001332)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Hypermethioninemia (HP:0003235)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT1A
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Gene: MAT2A
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Stroke (HP:0001297)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Tall stature (HP:0000098)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Pregnancy history (HP:0002686)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Aortic dissection (HP:0002647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Carotid artery dilatation (HP:0012163)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Ischemic stroke (HP:0002140)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Subarachnoid hemorrhage (HP:0002138)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Hemoptysis (HP:0002105)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Abnormality of connective tissue (HP:0003549)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Mucoid extracellular matrix accumulation (HP:0200146)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Dural ectasia (HP:0100775)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Descending thoracic aorta aneurysm (HP:0004959)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Ascending aortic dissection (HP:0004933)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Paroxysmal dyspnea (HP:0012763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Hypertension (HP:0000822)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Retrognathia (HP:0000278)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Abdominal aortic aneurysm (HP:0005112)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Descending aortic dissection (HP:0012499)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Pes planus (HP:0001763)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MAT2A
Phenotype: Abnormality iris morphology (HP:0000525)
Associated disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Gene: MATN3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Short femoral neck (HP:0100864)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Delayed ossification of carpal bones (HP:0001216)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Waddling gait (HP:0002515)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Abnormal upper limb epiphysis morphology (HP:0003839)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Abnormal hip joint morphology (HP:0001384)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SEMD, matrilin-3 type; Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related (ORPHA:156728)
Gene: MATN3
Phenotype: Delayed proximal femoral epiphyseal ossification (HP:0008828)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Dysplastic iliac wing (HP:0008794)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Multiple epiphyseal dysplasia (HP:0002654)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 2 (OMIM:140600)
Gene: MATN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Spondyloepimetaphyseal dysplasia (HP:0002651)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: OSTEOARTHRITIS SUSCEPTIBILITY 2 (OMIM:140600)
Gene: MATN3
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Arthralgia of the hip (HP:0003365)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MATN3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: MATN3
Phenotype: Delayed tarsal ossification (HP:0008103)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Back pain (HP:0003418)
Associated disease: Multiple epiphyseal dysplasia type 5; Polyepiphyseal dysplasia type 5; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; BHMED; MED5 (ORPHA:93311)
Gene: MATN3
Phenotype: Small epiphyses (HP:0010585)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Small epiphyses (HP:0010585)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Irregular epiphyses (HP:0010582)
Associated disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Gene: MATN3
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Gene: MATN3
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)