TaoMedAI/RareMedData huggingface dataset:
Gene: CEP57
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Wide nose (HP:0000445)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Cataract (HP:0000518)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Glaucoma (HP:0000501)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: CEP57
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 (OMIM:614114)
Gene: CEP57
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburton-Anyane-Yeboa syndrome; Mosaic variegated aneuploidy syndrome (ORPHA:1052)
Gene: RUBCN
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Postural instability (HP:0002172)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive spinocerebellar ataxia type 15; Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency; SCAR15; Salih ataxia (ORPHA:404499)
Gene: RUBCN
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: RUBCN
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 (OMIM:615705)
Gene: ADAMTSL2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Seizure (HP:0001250)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Abnormal joint morphology (HP:0001367)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Short metacarpals with rounded proximal ends (HP:0006161)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Coxa valga (HP:0002673)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Coxa valga (HP:0002673)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Constrictive median neuropathy (HP:0012185)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Wide mouth (HP:0000154)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Rickets (HP:0002748)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Asthma (HP:0002099)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Tricuspid stenosis (HP:0010446)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Increased size of nasopharyngeal adenoids (HP:0040261)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Echolalia (HP:0010529)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Laryngotracheal stenosis (HP:0004894)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Elevated pulmonary artery pressure (HP:0004890)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Hernia (HP:0100790)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Severe short stature (HP:0003510)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Aphasia (HP:0002381)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Abnormality of subcutaneous fat tissue (HP:0001001)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Thickened skin (HP:0001072)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Thickened skin (HP:0001072)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Esophagitis (HP:0100633)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Scarring (HP:0100699)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Mutism (HP:0002300)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Short palm (HP:0004279)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Short palm (HP:0004279)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Short stature (HP:0004322)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Short stature (HP:0004322)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ADAMTSL2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Dermatosparaxis EDS; Human dermatosparaxis EDS VIIC; dEDS; Dermatosparaxis Ehlers-Danlos syndrome; Ehlers-Danlos syndrome type 7C (ORPHA:1901)
Gene: ADAMTSL2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Short long bone (HP:0003026)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Short long bone (HP:0003026)
Associated disease: Geleophysic dwarfism; Geleophysic dysplasia (ORPHA:2623)
Gene: ADAMTSL2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
Gene: ADAMTSL2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ADAMTSL2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)