TaoMedAI/RareMedData huggingface dataset:
Gene: NIPBL
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Hypoplastic male external genitalia (HP:0000050)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypospadias (HP:0000047)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypospadias (HP:0000047)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Hypoplastic radial head (HP:0003997)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Oligodactyly (HP:0012165)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Cleft palate (HP:0000175)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Lacrimal duct stenosis (HP:0007678)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Curly eyelashes (HP:0007665)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Cleft lip (HP:0410030)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Abnormality of the uterus (HP:0000130)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Renal cyst (HP:0000107)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Abnormal incisura morphology (HP:0031228)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Anal atresia (HP:0002023)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Poor suck (HP:0002033)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Pneumonia (HP:0002090)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Malrotation of colon (HP:0004785)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Infantile onset (HP:0003593)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Congenital onset (HP:0003577)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Hirsutism (HP:0001007)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Phocomelia (HP:0009829)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Small hand (HP:0200055)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Small hand (HP:0200055)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Duplication of phalanx of hallux (HP:0010066)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Reduced renal corticomedullary differentiation (HP:0005565)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Nystagmus (HP:0000639)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Synophrys (HP:0000664)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Synophrys (HP:0000664)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Short stature (HP:0004322)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Short stature (HP:0004322)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Anxiety (HP:0000739)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Anxiety (HP:0000739)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Autism (HP:0000717)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Short nose (HP:0003196)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Short nose (HP:0003196)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Short sternum (HP:0000879)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Finger aplasia (HP:0009380)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Clinodactyly (HP:0030084)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Brachycephaly (HP:0000248)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: High palate (HP:0000218)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: High palate (HP:0000218)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Prenatal movement abnormality (HP:0001557)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Otitis media (HP:0000388)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Weak cry (HP:0001612)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)