TaoMedAI/RareMedData huggingface dataset:
Gene: EBP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Short stature (HP:0004322)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Short stature (HP:0004322)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Short stature (HP:0004322)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Abnormal auditory evoked potentials (HP:0006958)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Neonatal epiphyseal stippling (HP:0005756)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Abnormal skull morphology (HP:0000929)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Anomalous tracheal cartilage (HP:0004468)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Scarring alopecia of scalp (HP:0004552)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Edema (HP:0000969)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Sparse hair (HP:0008070)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Scaling skin (HP:0040189)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Malar flattening (HP:0000272)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Kyphosis (HP:0002808)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Kyphosis (HP:0002808)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: High palate (HP:0000218)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: High palate (HP:0000218)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: High palate (HP:0000218)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Calcific stippling (HP:0002832)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Flat face (HP:0012368)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Low-set ears (HP:0000369)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Micrognathia (HP:0000347)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Micrognathia (HP:0000347)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Microretrognathia (HP:0000308)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Anterior rib punctate calcifications (HP:0006619)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Microcornea (HP:0000482)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Long neck (HP:0000472)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Long neck (HP:0000472)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Short neck (HP:0000470)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Abnormal nasal bridge morphology (HP:0000422)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Cataract (HP:0000518)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Cataract (HP:0000518)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Cataract (HP:0000518)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Cataract (HP:0000518)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Telecanthus (HP:0000506)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Glaucoma (HP:0000501)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CDPXD; CDPX2; CPXD; Chondrodystrophia calcificans congenita; X-linked dominant chondrodysplasia punctata; Conradi-Hünermann-Happle syndrome; X-linked chondrodysplasia punctata type 2 (ORPHA:35173)
Gene: EBP
Phenotype: Microphthalmia (HP:0000568)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Esotropia (HP:0000565)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Meningocele (HP:0002435)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Rib spur (HP:6000652)
Associated disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Gene: DLL3
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Hypospadias (HP:0000047)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Gene: DLL3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DLL3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DLL3
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)