TaoMedAI/RareMedData huggingface dataset:
Gene: GNB5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Sick sinus syndrome (HP:0011704)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Infantile onset (HP:0003593)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Nystagmus (HP:0000639)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Nystagmus (HP:0000639)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Nystagmus (HP:0000639)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Hyperactivity (HP:0000752)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Arrhythmia (HP:0011675)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Prolonged PR interval (HP:0012248)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Microcephaly (HP:0000252)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Ventricular escape rhythm (HP:0005155)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Bradycardia (HP:0001662)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Bradycardia (HP:0001662)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Bradycardia (HP:0001662)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Gene: GNB5
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Keratoconus (HP:0000563)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: GNB5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Gene: GNB5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Gene: EBP
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Anterior polar cataract (HP:0001134)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Asymmetry of the mouth (HP:0009941)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
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: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Long fingers (HP:0100807)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Long fingers (HP:0100807)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Hypertonia (HP:0001276)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Seizure (HP:0001250)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Seizure (HP:0001250)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Congenital ichthyosiform erythroderma (HP:0007431)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Flexion contracture (HP:0001371)
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: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Severe postnatal growth retardation (HP:0008850)
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: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Absent speech (HP:0001344)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Rhizomelia (HP:0008905)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Erythematous plaque (HP:0025474)
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: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Tracheal stenosis (HP:0002777)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Tracheal calcification (HP:0002787)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Hydronephrosis (HP:0000126)
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: Hydronephrosis (HP:0000126)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Kyphoscoliosis (HP:0002751)
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: Kyphoscoliosis (HP:0002751)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Frontal bossing (HP:0002007)
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: Frontal bossing (HP:0002007)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Abnormal lung morphology (HP:0002088)
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: Upper limb asymmetry (HP:0100560)
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: Hemiatrophy (HP:0100556)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Lower limb asymmetry (HP:0100559)
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: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Polydactyly (HP:0010442)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Tarsal stippling (HP:0008131)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Abnormally ossified vertebrae (HP:0100569)
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: Ventriculomegaly (HP:0002119)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Elevated 8(9)-cholestenol (HP:0003465)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Elevated 8(9)-cholestenol (HP:0003465)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Elevated 8-dehydrocholesterol (HP:0003462)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Elevated 8-dehydrocholesterol (HP:0003462)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Arachnoid cyst (HP:0100702)
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: Patchy alopecia (HP:0002232)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Patchy alopecia (HP:0002232)
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: Coarse hair (HP:0002208)
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 hair pattern (HP:0010720)
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: Epiphyseal stippling (HP:0010655)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Epiphyseal stippling (HP:0010655)
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: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Erythroderma (HP:0001019)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Erythroderma (HP:0001019)
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: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
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: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
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: Punctate vertebral calcifications (HP:0008420)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Spotty hypopigmentation (HP:0005590)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Stippled calcification in carpal bones (HP:0004241)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EBP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Broad hallux (HP:0010055)
Associated disease: MEND syndrome; Male EBP disorder with neurological defects (ORPHA:401973)
Gene: EBP
Phenotype: Broad hallux (HP:0010055)
Associated disease: MEND SYNDROME (OMIM:300960)
Gene: EBP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EBP
Phenotype: Sparse eyelashes (HP:0000653)
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 eyelashes (HP:0000653)
Associated disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT (OMIM:302960)
Gene: EBP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)