TaoMedAI/RareMedData huggingface dataset:
Gene: RRAGC
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Cataract (HP:0000518)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: NOD2
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Iritis (HP:0001101)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Abnormal cranial nerve morphology (HP:0001291)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Intestinal fistula (HP:0100819)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Tendonitis (HP:0025230)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Intermittent generalized erythematous papular rash (HP:0007432)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Arthritis (HP:0001369)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Arthritis (HP:0001369)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Arthritis (HP:0001369)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Joint swelling (HP:0001386)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Joint swelling (HP:0001386)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Oral ulcer (HP:0000155)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Posterior uveitis (HP:0012123)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Non-Mendelian inheritance (HP:0001426)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Nephropathy (HP:0000112)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Myalgia (HP:0003326)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Diarrhea (HP:0002014)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Diarrhea (HP:0002014)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Asthma (HP:0002099)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Pleuritis (HP:0002102)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Synovitis (HP:0100769)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Synovitis (HP:0100769)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Chest pain (HP:0100749)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Retrobulbar optic neuritis (HP:0100654)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Papule (HP:0200034)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Iridocyclitis (HP:0001094)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Erythema (HP:0010783)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Photophobia (HP:0000613)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Fever (HP:0001945)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Recurrent fever (HP:0001954)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Anemia (HP:0001903)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Abnormal inflammatory response (HP:0012647)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Hypertension (HP:0000822)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Hypertension (HP:0000822)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Abnormal salivary gland morphology (HP:0010286)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Crohn's disease (HP:0100280)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Skin rash (HP:0000988)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Skin rash (HP:0000988)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Dry skin (HP:0000958)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Arthralgia (HP:0002829)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Erythema nodosum (HP:0012219)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Xerostomia (HP:0000217)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Xerostomia (HP:0000217)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Growth delay (HP:0001510)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Nongranulomatous uveitis (HP:0007813)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Large vessel vasculitis (HP:0005310)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Pericarditis (HP:0001701)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Pericarditis (HP:0001701)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Pericarditis (HP:0001701)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Keratitis (HP:0000491)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Retinopathy (HP:0000488)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Inflammatory abnormality of the skin (HP:0011123)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Clear cell renal cell carcinoma (HP:0006770)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Cataract (HP:0000518)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Cataract (HP:0000518)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Weight loss (HP:0001824)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Weight loss (HP:0001824)
Associated disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Gene: NOD2
Phenotype: Glaucoma (HP:0000501)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Band keratopathy (HP:0000585)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: NOD2
Phenotype: Uveitis (HP:0000554)
Associated disease: BLAU SYNDROME (OMIM:186580)
Gene: NOD2
Phenotype: Uveitis (HP:0000554)
Associated disease: YAO SYNDROME (OMIM:617321)
Gene: NOD2
Phenotype: Visual loss (HP:0000572)
Associated disease: Blau syndrome (ORPHA:90340)
Gene: XYLT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Civatte bodies (HP:0025115)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Angioid streaks of the fundus (HP:0001102)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Stroke (HP:0001297)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Tapered humerus (HP:0003883)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Spatulate thumbs (HP:0001222)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Shoulder dislocation (HP:0003834)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Dislocated wrist (HP:0003994)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Spondyloepiphyseal dysplasia (HP:0002655)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Rhizomelia (HP:0008905)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Moon facies (HP:0500011)
Associated disease: XYLT1-CDG (ORPHA:370930)
Gene: XYLT1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Bronchomalacia (HP:0002780)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Weak pulse (HP:0032553)
Associated disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Gene: XYLT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: XYLT1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Abnormal femoral neck/head morphology (HP:0003366)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: XYLT1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Spondylolysis (HP:0003304)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XYLT1
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: XYLT1
Phenotype: Bipartite calcaneus (HP:0008127)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: XYLT1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XYLT1
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: XYLT1
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)