TaoMedAI/RareMedData huggingface dataset:
Gene: RELA
Phenotype: Vaginal mucosal ulceration (HP:0032565)
Associated disease: MUCOCUTANEOUS ULCERATION, CHRONIC (OMIM:618287)
Gene: RELA
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MUCOCUTANEOUS ULCERATION, CHRONIC (OMIM:618287)
Gene: RELB
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Asthma (HP:0002099)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Chronic cough (HP:0034315)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Skin rash (HP:0000988)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: RELB
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Gene: REN
Phenotype: Renotubular dysgenesis (HP:0008660)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Proteinuria (HP:0000093)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Hypotension (HP:0002615)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Potter facies (HP:0002009)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Anuria (HP:0100519)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Hyperuricemia (HP:0002149)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Anemia (HP:0001903)
Associated disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 (OMIM:613092)
Gene: REN
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Microcephaly (HP:0000252)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: REN
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Gene: DPF2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Severe temper tantrums (HP:0025162)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Motor delay (HP:0001270)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Seizure (HP:0001250)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Hypospadias (HP:0000047)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Absent speech (HP:0001344)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Wide mouth (HP:0000154)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Floppy infant (HP:0008947)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Constipation (HP:0002019)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Hernia (HP:0100790)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Hypoplastic fifth fingernail (HP:0008398)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Hirsutism (HP:0001007)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Microdontia (HP:0000691)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Short stature (HP:0004322)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Sagittal craniosynostosis (HP:0004442)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Short nose (HP:0003196)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Wide nasal base (HP:0012810)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Epicanthus (HP:0000286)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Broad philtrum (HP:0000289)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Growth delay (HP:0001510)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Low-set ears (HP:0000369)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Short philtrum (HP:0000322)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DPF2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Gene: DPF2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DPF2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Macrotia (HP:0000400)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)
Gene: DPF2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: COFFIN-SIRIS SYNDROME 7 (OMIM:618027)