TaoMedAI/RareMedData huggingface dataset:
Gene: EFL1
Phenotype: Decreased circulating vitamin K concentration (HP:0011892)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Reduced circulating vitamin A concentration (HP:0004905)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Leukemia (HP:0001909)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Anemia (HP:0001903)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Short stature (HP:0004322)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Short stature (HP:0004322)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Malnutrition (HP:0004395)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Short attention span (HP:0000736)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Deformed rib cage (HP:0000886)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Hypopituitarism (HP:0040075)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Metaphyseal chondrodysplasia (HP:0005871)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Impaired neutrophil chemotaxis (HP:0040238)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Abnormality of the thoracic cavity (HP:0045027)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Skin rash (HP:0000988)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Osteopenia (HP:0000938)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Proximal femoral epiphysiolysis (HP:0006461)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Sinusitis (HP:0000246)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: High palate (HP:0000218)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Death in infancy (HP:0001522)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Growth delay (HP:0001510)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Subglottic stenosis (HP:0001607)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: High myopia (HP:0011003)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Low-set ears (HP:0000369)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Genu varum (HP:0002970)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Normocytic anemia (HP:0001897)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EFL1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EFL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: EFL1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SDS; Shwachman-Diamond syndrome; Pancreatic insufficiency and bone marrow dysfunction; Shwachman-Bodian-Diamond syndrome; Shwachman syndrome (ORPHA:811)
Gene: EFL1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 2 (OMIM:617941)
Gene: FAT4
Phenotype: Syndactyly (HP:0001159)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
Gene: FAT4
Phenotype: Syndactyly (HP:0001159)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: FAT4
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: High anterior hairline (HP:0009890)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: FAT4
Phenotype: Microtia (HP:0008551)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
Gene: FAT4
Phenotype: Microtia (HP:0008551)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: FAT4
Phenotype: Microtia (HP:0008551)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: FAT4
Phenotype: Benign neoplasm of the central nervous system (HP:0100835)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: FAT4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
Gene: FAT4
Phenotype: Seizure (HP:0001250)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: FAT4
Phenotype: Hypotonia (HP:0001252)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Ataxia (HP:0001251)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: FAT4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: FAT4
Phenotype: Intestinal lymphangiectasia (HP:0002593)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2 (OMIM:616006)
Gene: FAT4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: FAT4
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)
Gene: FAT4
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: FAT4
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: VAN MALDERGEM SYNDROME 2 (OMIM:615546)