TaoMedAI/RareMedData huggingface dataset:
Gene: HSPG2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Strabismus (HP:0000486)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Strabismus (HP:0000486)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Microcornea (HP:0000482)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Microcornea (HP:0000482)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Short neck (HP:0000470)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Short neck (HP:0000470)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Short neck (HP:0000470)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Short foot (HP:0001773)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Pes planus (HP:0001763)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Pes planus (HP:0001763)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Abnormality of the spleen (HP:0001743)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Cataract (HP:0000518)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Cataract (HP:0000518)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Cataract (HP:0000518)
Associated disease: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE (OMIM:224410)
Gene: HSPG2
Phenotype: Cataract (HP:0000518)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Proptosis (HP:0000520)
Associated disease: Dyssegmental dysplasia, Silverman-Handmaker type (ORPHA:1865)
Gene: HSPG2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Ptosis (HP:0000508)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Ptosis (HP:0000508)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Visual impairment (HP:0000505)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: HSPG2
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: 1p36 deletion syndrome; Monosomy 1pter; Subtelomeric 1p36 deletion; Deletion 1p36; Deletion 1pter; Monosomy 1p36; Del(1)(p36) (ORPHA:1606)
Gene: HSPG2
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: HSPG2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: HSPG2
Phenotype: Myopia (HP:0000545)
Associated disease: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 (OMIM:255800)
Gene: HSPG2
Phenotype: Myopia (HP:0000545)
Associated disease: Aberfeld syndrome; SJS1; Schwartz-Jampel syndrome type 1; SJS; Schwartz-Jampel syndrome; Dysostosis enchondralis metaepiphysaria, Catel-Hempel type; Schwartz-Jampel-Aberfeld syndrome; Myotonic chondrodystrophy; Osteochondromuscular dystrophy; Catel-Hempel syndrome; Burton skeletal dysplasia; Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies; Burton syndrome (ORPHA:800)
Gene: NDST1
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Agitation (HP:0000713)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Large for gestational age (HP:0001520)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Pes planus (HP:0001763)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: NDST1
Phenotype: Protruding ear (HP:0000411)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46 (OMIM:616116)
Gene: HTR1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT (OMIM:614674)
Gene: HTR1A
Phenotype: Migraine (HP:0002076)
Associated disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT (OMIM:614674)
Gene: HTR1A
Phenotype: Recurrent spontaneous abortion (HP:0200067)
Associated disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT (OMIM:614674)
Gene: HTR1A
Phenotype: Fever (HP:0001945)
Associated disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT (OMIM:614674)
Gene: HTR1A
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT (OMIM:614674)
Gene: HTR2A
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: HTR2A
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Gene: HTR2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: HTR2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: HTR2A
Phenotype: Skin-picking (HP:0012166)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: HTR2A
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: HTR2A
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: HTR2A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: HTR2A
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: HTR2A
Phenotype: Anxiety (HP:0000739)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: HTR2A
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: HTR2A
Phenotype: Depression (HP:0000716)
Associated disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Gene: HTR2A
Phenotype: Depression (HP:0000716)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: HTR2A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: HTR2A
Phenotype: Collectionism (HP:0030212)
Associated disease: OBSESSIVE-COMPULSIVE DISORDER (OMIM:164230)
Gene: TNC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
Gene: TNC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
Gene: TNC
Phenotype: Young adult onset (HP:0011462)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
Gene: TNC
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
Gene: TNC
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 56 (OMIM:615629)
Gene: HYAL1
Phenotype: Acetabular erosions (HP:0033640)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Diminished circulating hyaluronidase activity (HP:6000969)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Hyperextensibility at elbow (HP:0010485)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Synovitis (HP:0100769)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Popliteal synovial cyst (HP:0032072)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Periarticular soft-tissue mass (HP:0020127)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Short stature (HP:0004322)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Short stature (HP:0004322)
Associated disease: MPS9; Hyaluronidase deficiency; Mucopolysaccharidosis type IX; Mucopolysaccharidosis type 9; MPSIX (ORPHA:67041)
Gene: HYAL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Abnormal acetabulum morphology (HP:0003170)
Associated disease: MPS9; Hyaluronidase deficiency; Mucopolysaccharidosis type IX; Mucopolysaccharidosis type 9; MPSIX (ORPHA:67041)
Gene: HYAL1
Phenotype: Knee pain (HP:0030839)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Hip pain (HP:0030838)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Ankle pain (HP:0030840)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Chondrocalcinosis (HP:0000934)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Wrist hypermobility (HP:0005072)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: HYAL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Gene: IARS1
Phenotype: Seizure (HP:0001250)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Seizure (HP:0001250)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)
Gene: IARS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: GROWTH RETARDATION, IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND HEPATOPATHY (OMIM:617093)
Gene: IARS1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Growth delay-intellectual disability-hepatopathy syndrome (ORPHA:541423)