TaoMedAI/RareMedData huggingface dataset:
Gene: SF3B4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Gastroschisis (HP:0001543)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Trismus (HP:0000211)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Cupped ear (HP:0000378)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Aplasia/Hypoplasia of the ulna (HP:0006495)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Low-set ears (HP:0000369)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Micrognathia (HP:0000347)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Premature birth (HP:0001622)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Temporomandibular joint ankylosis (HP:0012478)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Hypoplasia of the epiglottis (HP:0005349)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Hypoplasia of first ribs (HP:0006657)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Strabismus (HP:0000486)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Acrofacial dysostosis, Rodríguez type (ORPHA:1788)
Gene: SF3B4
Phenotype: Foot oligodactyly (HP:0001849)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Overlapping toe (HP:0001845)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SF3B4
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Hallux valgus (HP:0001822)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Ptosis (HP:0000508)
Associated disease: Mandibulofacial dysostosis with preaxial limb anomalies; Nager syndrome; NAFD; Nager acrofacial dysostosis; Preaxial acrodysostosis (ORPHA:245)
Gene: SF3B4
Phenotype: Short toe (HP:0001831)
Associated disease: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE (OMIM:154400)
Gene: SF3B4
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SF3B4
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IRX5
Phenotype: Tapered finger (HP:0001182)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Syndactyly (HP:0001159)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Long fingers (HP:0100807)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Wide mouth (HP:0000154)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Long toe (HP:0010511)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Short 2nd finger (HP:0009536)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Congenital onset (HP:0003577)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Abnormal number of hair whorls (HP:0010813)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Neck pterygia (HP:0009759)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Hypodontia (HP:0000668)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Osteopenia (HP:0000938)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Sparse hair (HP:0008070)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: High palate (HP:0000218)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Hyperplasia of midface (HP:0012371)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: High myopia (HP:0011003)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Low-set ears (HP:0000369)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Complete atrioventricular canal defect (HP:0001674)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Long philtrum (HP:0000343)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Micrognathia (HP:0000347)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Prolonged QRS complex (HP:0006677)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Telecanthus (HP:0000506)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: IRX5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HAMAMY SYNDROME (OMIM:611174)
Gene: ZMPSTE24
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Pubertal developmental failure in females (HP:0008647)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Left ventricular diastolic dysfunction (HP:0025168)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Short umbilical cord (HP:0001196)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Short umbilical cord (HP:0001196)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Aplasia/Hypoplasia involving the nose (HP:0009924)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Prominent ear helix (HP:0009904)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Avascular necrosis (HP:0010885)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Low-frequency sensorineural hearing impairment (HP:0008573)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Calcinosis (HP:0003761)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Stroke (HP:0001297)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Abnormality of the vasculature (HP:0002597)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Alopecia totalis (HP:0007418)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Prominent superficial blood vessels (HP:0007394)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Prominent superficial blood vessels (HP:0007394)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Abnormal fingertip morphology (HP:0001211)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Stillbirth (HP:0003826)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Ankylosis (HP:0031013)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Neonatal death (HP:0003811)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Limited hip movement (HP:0008800)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Abnormal cellular phenotype (HP:0025354)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Flexion contracture (HP:0001371)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Hypospadias (HP:0000047)
Associated disease: Lethal restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal tight skin-contracture syndrome; Restrictive dermopathy (ORPHA:1662)
Gene: ZMPSTE24
Phenotype: Hypospadias (HP:0000047)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Gene: ZMPSTE24
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Coxa valga (HP:0002673)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Gene: ZMPSTE24
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Wormian bones (HP:0002645)
Associated disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Gene: ZMPSTE24
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Atherosclerosis (HP:0002621)
Associated disease: Progeria; HGPS; Hutchinson-Gilford progeria syndrome (ORPHA:740)
Gene: ZMPSTE24
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZMPSTE24
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZMPSTE24
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)