TaoMedAI/RareMedData huggingface dataset:
Gene: ZMPSTE24
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Narrow mouth (HP:0000160)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Osteolysis (HP:0002797)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Aplasia/Hypoplasia of the eccrine sweat glands (HP:0007592)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Small placenta (HP:0006266)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Large placenta (HP:0006267)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Upper airway obstruction (HP:0002781)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Decreased adipose tissue around neck (HP:0005995)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Congenital adrenal hypoplasia (HP:0008244)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Limitation of movement at ankles (HP:0010505)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Narrow nasal tip (HP:0011832)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Infantile onset (HP:0003593)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Congenital onset (HP:0003577)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Absent eyebrow (HP:0002223)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Sparse or absent eyelashes (HP:0200102)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Brittle hair (HP:0002299)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Dermal translucency (HP:0010648)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Hypermelanotic macule (HP:0001034)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Shuffling gait (HP:0002362)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Papule (HP:0200034)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Osteolytic defects of the distal phalanges of the hand (HP:0009839)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Lack of skin elasticity (HP:0100679)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Mottled pigmentation (HP:0001070)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Skin erosion (HP:0200041)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Skin erosion (HP:0200041)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Ectopic calcification (HP:0010766)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Generalized hyperkeratosis (HP:0005595)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Entropion (HP:0000621)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Entropion (HP:0000621)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Generalized lipodystrophy (HP:0009064)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Generalized abnormality of skin (HP:0011354)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Dental crowding (HP:0000678)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Dental crowding (HP:0000678)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Natal tooth (HP:0000695)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Natal tooth (HP:0000695)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Loss of truncal subcutaneous adipose tissue (HP:0009002)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Hypodontia (HP:0000668)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Short stature (HP:0004322)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Microcolon (HP:0004388)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Mitral valve calcification (HP:0004382)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Aortic valve calcification (HP:0004380)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Third trimester onset (HP:0034197)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Hydropic placenta (HP:0011414)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Loss of eyelashes (HP:0011457)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Fetal onset (HP:0011461)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Short nose (HP:0003196)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Short nose (HP:0003196)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Progressive clavicular acroosteolysis (HP:0000905)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Progressive clavicular acroosteolysis (HP:0000905)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Thin ribs (HP:0000883)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Insulin resistance (HP:0000855)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Hypertension (HP:0000822)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Short clavicles (HP:0000894)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Short clavicles (HP:0000894)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Short clavicles (HP:0000894)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Structural foot deformity (HP:0010219)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Hip pain (HP:0030838)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Cyanosis (HP:0000961)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Thin skin (HP:0000963)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Thin skin (HP:0000963)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)