TaoMedAI/RareMedData huggingface dataset:
Gene: ZMPSTE24
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Osteopenia (HP:0000938)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Sparse hair (HP:0008070)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Sparse hair (HP:0008070)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Scaling skin (HP:0040189)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Scaling skin (HP:0040189)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Retrognathia (HP:0000278)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Alopecia (HP:0001596)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Alopecia (HP:0001596)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Limited shoulder movement (HP:0006467)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Overtubulated long bones (HP:0006391)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Large fontanelles (HP:0000239)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: High palate (HP:0000218)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: High palate (HP:0000218)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Prominent umbilicus (HP:0001544)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Nocturnal lagophthalmos (HP:0030002)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Stiff skin (HP:0030053)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Growth delay (HP:0001510)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Impacted tooth (HP:0011079)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Increased anterioposterior diameter of thorax (HP:0005253)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Increased anterioposterior diameter of thorax (HP:0005253)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Premature delivery because of cervical insufficiency or membrane fragility (HP:0005267)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Congenital pseudoarthrosis of the clavicle (HP:0006585)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Low-set ears (HP:0000369)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Low-set ears (HP:0000369)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Angina pectoris (HP:0001681)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Micrognathia (HP:0000347)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Micrognathia (HP:0000347)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Micrognathia (HP:0000347)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Micrognathia (HP:0000347)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Bird-like facies (HP:0000320)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Short chin (HP:0000331)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Premature birth (HP:0001622)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Premature birth (HP:0001622)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Temporomandibular joint ankylosis (HP:0012478)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Temporomandibular joint ankylosis (HP:0012478)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Progeroid facial appearance (HP:0005328)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Thin clavicles (HP:0006645)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Thin clavicles (HP:0006645)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Carotid artery occlusion (HP:0012474)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Webbed neck (HP:0000465)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Short nail (HP:0001799)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Short nail (HP:0001799)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Abnormal nasal tip morphology (HP:0000436)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Choanal atresia (HP:0000453)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Spontaneous chorioamniotic separation (HP:0025712)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: High-frequency sensorineural hearing impairment (HP:0001757)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Aplasia/Hypoplasia of the clavicles (HP:0006710)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Aplasia/Hypoplasia of the clavicles (HP:0006710)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Decreased calvarial ossification (HP:0005474)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Craniofacial disproportion (HP:0005461)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Proptosis (HP:0000520)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Proptosis (HP:0000520)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Weight loss (HP:0001824)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Telecanthus (HP:0000506)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Delayed menarche (HP:0012569)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Shallow orbits (HP:0000586)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Acroosteolysis of distal phalanges (feet) (HP:0001870)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: STUB1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Seizure (HP:0001250)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Gene: STUB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)
Gene: STUB1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Gene: STUB1
Phenotype: Corpus callosum atrophy (HP:0007371)
Associated disease: SCAR16; Spinocerebellar ataxia autosomal recessive type 16; Autosomal recessive cerebellar ataxia due to STUB1 deficiency (ORPHA:412057)