TaoMedAI/RareMedData huggingface dataset:
Gene: CEP120
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Narrow chest (HP:0000774)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Short tibia (HP:0005736)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Squared iliac bones (HP:0003177)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Bifid tongue (HP:0010297)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Short thorax (HP:0010306)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Long face (HP:0000276)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Omphalocele (HP:0001539)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Dextrocardia (HP:0001651)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Microretrognathia (HP:0000308)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Macrotia (HP:0000400)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Strabismus (HP:0000486)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Strabismus (HP:0000486)
Associated disease: JOUBERT SYNDROME 31 (OMIM:617761)
Gene: CEP120
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Anteverted nares (HP:0000463)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Prominent nose (HP:0000448)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP120
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Ptosis (HP:0000508)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: CEP120
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: CEP120
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Visual loss (HP:0000572)
Associated disease: JS-O; Joubert syndrome with ocular defect; Joubert syndrome with retinopathy (ORPHA:220493)
Gene: CEP120
Phenotype: Microphthalmia (HP:0000568)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY (OMIM:616300)
Gene: CEP120
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP120
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MARVELD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 49 (OMIM:610153)
Gene: MARVELD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 49 (OMIM:610153)
Gene: MARVELD2
Phenotype: Prelingual sensorineural hearing impairment (HP:0000399)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 49 (OMIM:610153)
Gene: ARSK
Phenotype: Vitreous floaters (HP:0100832)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Irregular acetabular roof (HP:0008833)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Dermatan sulfate excretion in urine (HP:0008301)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Open bite (HP:0010807)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Diastema (HP:0000699)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Broad clavicles (HP:0000916)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Platyspondyly (HP:0000926)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Broad ribs (HP:0000885)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Posterior scalloping of vertebral bodies (HP:0005121)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Genu valgum (HP:0002857)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Long philtrum (HP:0000343)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Spatulate ribs (HP:0012307)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Thickened aortic valve cusp (HP:0031568)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: ARSK
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE X (OMIM:619698)
Gene: PNLDC1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: SPERMATOGENIC FAILURE 57 (OMIM:619528)
Gene: PNLDC1
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PNLDC1
Phenotype: Spermatogenesis maturation arrest (HP:0031038)
Associated disease: SPERMATOGENIC FAILURE 57 (OMIM:619528)
Gene: PNLDC1
Phenotype: Abnormal spermatogenesis (HP:0008669)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PNLDC1
Phenotype: Azoospermia (HP:0000027)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PNLDC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 57 (OMIM:619528)
Gene: PNLDC1
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PNLDC1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 57 (OMIM:619528)
Gene: PNLDC1
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PNLDC1
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PNLDC1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 57 (OMIM:619528)
Gene: PNLDC1
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: PNLDC1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 57 (OMIM:619528)
Gene: KHDC3L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 2 (OMIM:614293)
Gene: KHDC3L
Phenotype: Hydatidiform mole (HP:0032192)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 2 (OMIM:614293)
Gene: KCTD7
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Progressive truncal ataxia (HP:0007221)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Dysarthria (HP:0001260)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Dysarthria (HP:0001260)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Photosensitive myoclonic seizure (HP:0001327)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)