TaoMedAI/RareMedData huggingface dataset:
Gene: KIAA0586
Phenotype: Bell-shaped thorax (HP:0001591)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
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: KIAA0586
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
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: KIAA0586
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
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: KIAA0586
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
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: KIAA0586
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Failure to thrive (HP:0001508)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Colpocephaly (HP:0030048)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Subretinal deposits (HP:0031528)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Overfolded helix (HP:0000396)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
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: KIAA0586
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Low-set ears (HP:0000369)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
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: KIAA0586
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Micrognathia (HP:0000347)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Micromelia (HP:0002983)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Hypertelorism (HP:0000316)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Aplastic clavicle (HP:0006660)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Twelfth rib hypoplasia (HP:0006668)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
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: KIAA0586
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
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: KIAA0586
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Short neck (HP:0000470)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Gene: KIAA0586
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
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: KIAA0586
Phenotype: Aplasia/Hypoplasia involving bones of the thorax (HP:0006711)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
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: KIAA0586
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: KIAA0586
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Coloboma (HP:0000589)
Associated disease: JOUBERT SYNDROME 23 (OMIM:616490)
Gene: KIAA0586
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Visual loss (HP:0000572)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: KIAA0586
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: KIAA0586
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0586
Phenotype: Myopia (HP:0000545)
Associated disease: JBTS with JATD; Joubert syndrome with Jeune asphyxiating thoracic dystrophy; Joubert syndrome with JATD (ORPHA:397715)
Gene: BMS1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Congenital localized absence of skin (HP:0007383)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: APLASIA CUTIS CONGENITA, NONSYNDROMIC (OMIM:107600)
Gene: BMS1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Aplasia cutis congenita (HP:0001057)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Erythema (HP:0010783)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Aplasia cutis congenita over the scalp vertex (HP:0004471)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Aplasia cutis congenita over the scalp vertex (HP:0004471)
Associated disease: APLASIA CUTIS CONGENITA, NONSYNDROMIC (OMIM:107600)
Gene: BMS1
Phenotype: Tactile hypersensitivity (HP:5200061)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Spinal dysraphism (HP:0010301)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: BMS1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Aplasia cutis congenita (ORPHA:1114)
Gene: PTDSS1
Phenotype: Hyperextensibility of the finger joints (HP:0001187)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Syndactyly (HP:0001159)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Sporadic (HP:0003745)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Chordee (HP:0000041)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Abnormal penis morphology (HP:0000036)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Epispadias (HP:0000039)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Proximal symphalangism of hands (HP:0006152)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Microglossia (HP:0000171)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Diaphyseal undertubulation (HP:0005019)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Femoral hernia (HP:0100541)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Abnormal metacarpal morphology (HP:0005916)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Prominent scalp veins (HP:0001043)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)
Associated disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Gene: PTDSS1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Symphalangism affecting the phalanges of the hand (HP:0009773)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Short palm (HP:0004279)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Gene: PTDSS1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PTDSS1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTDSS1
Phenotype: Abnormal nasolacrimal system morphology (HP:0000614)
Associated disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)