TaoMedAI/RareMedData huggingface dataset:
Gene: SH3PXD2B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Flared metaphysis (HP:0003015)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Short long bone (HP:0003026)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Cortical irregularity (HP:0005731)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Broad clavicles (HP:0000916)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Prominent coccyx (HP:0040016)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Beaking of vertebral bodies (HP:0004568)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Osteoporosis (HP:0000939)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Osteopenia (HP:0000938)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Full cheeks (HP:0000293)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Genu recurvatum (HP:0002816)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Kyphosis (HP:0002808)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Kyphosis (HP:0002808)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: High palate (HP:0000218)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Growth delay (HP:0001510)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Camptodactyly (HP:0012385)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Bowing of the long bones (HP:0006487)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Low-set ears (HP:0000369)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Broad forehead (HP:0000337)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: High forehead (HP:0000348)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Micrognathia (HP:0000347)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Short philtrum (HP:0000322)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Megalocornea (HP:0000485)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Protruding ear (HP:0000411)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Protruding ear (HP:0000411)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Ter Haar syndrome; Frank-Ter Haar syndrome (ORPHA:137834)
Gene: SH3PXD2B
Phenotype: Flat occiput (HP:0005469)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SH3PXD2B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Proptosis (HP:0000520)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Prominent forehead (HP:0011220)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Buphthalmos (HP:0000557)
Associated disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Gene: SH3PXD2B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SH3PXD2B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KIAA0825
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A10 (OMIM:618498)
Gene: KIAA0825
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A10 (OMIM:618498)
Gene: KIAA0825
Phenotype: Congenital onset (HP:0003577)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A10 (OMIM:618498)
Gene: KIAA0825
Phenotype: Postaxial polydactyly type A (HP:0005696)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A10 (OMIM:618498)
Gene: KIAA0825
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: POLYDACTYLY, POSTAXIAL, TYPE A10 (OMIM:618498)
Gene: PNPLA1
Phenotype: Hypergranulosis (HP:0025114)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Generalized ichthyosis (HP:0007503)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Erythroderma (HP:0001019)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Erythroderma (HP:0001019)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Corneal erosion (HP:0200020)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Orthokeratotic hyperkeratosis (HP:0025080)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Ectropion (HP:0000656)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Short stature (HP:0004322)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Pruritus (HP:0000989)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Gene: PNPLA1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Alopecia (HP:0001596)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: PNPLA1
Phenotype: Keratitis (HP:0000491)
Associated disease: CIE; Erythrodermic ichthyosis; Congenital ichthyosiform erythroderma; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Gene: NSMCE2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Impaired glucose tolerance (HP:0040270)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Skin tags (HP:0010609)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Malar prominence (HP:0010620)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: NSMCE2
Phenotype: Severe short stature (HP:0003510)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Glucose intolerance (HP:0001952)
Associated disease: SECKEL SYNDROME 10 (OMIM:617253)
Gene: NSMCE2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NSMCE2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NSMCE2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)