TaoMedAI/RareMedData huggingface dataset:
Gene: AKR1D1
Phenotype: Jaundice (HP:0000952)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Jaundice (HP:0000952)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Abnormal intrahepatic bile duct morphology (HP:0011040)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Congenital bile acid synthesis defect type 2; Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency; BASD2 (ORPHA:79303)
Gene: AKR1D1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: AKR1D1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 (OMIM:235555)
Gene: SREBF1
Phenotype: Epiphora (HP:0009926)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Sepsis (HP:0100806)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Atrichia (HP:0500262)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Ichthyosis follicularis (HP:0031291)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Constipation (HP:0002019)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Diarrhea (HP:0002014)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Perioral erythema (HP:0033194)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Pneumonia (HP:0002090)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Erythematous oral mucosa (HP:0034418)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Delayed passage of meconium (HP:6000224)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Melena (HP:0002249)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Coarse hair (HP:0002208)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Chronic monilial nail infection (HP:0008396)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Keratoconjunctivitis (HP:0001096)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Keratosis pilaris (HP:0032152)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Bilious emesis (HP:0034754)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Blindness (HP:0000618)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Photophobia (HP:0000613)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Photophobia (HP:0000613)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Short stature (HP:0004322)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Enterocolitis (HP:0004387)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Corneal neovascularization (HP:0011496)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Hematuria (HP:0000790)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Sparse hair (HP:0008070)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Sparse hair (HP:0008070)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Alopecia (HP:0001596)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Rhinorrhea (HP:0031417)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Colon perforation (HP:0031369)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Growth delay (HP:0001510)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Intestinal obstruction (HP:0005214)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Fibrocystic lung disease (HP:0006552)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Cor pulmonale (HP:0001648)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Posterior blepharitis (HP:0025610)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Angular cheilitis (HP:0030318)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Strabismus (HP:0000486)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Keratitis (HP:0000491)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Cataract (HP:0000518)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Cataract (HP:0000518)
Associated disease: IFAP SYNDROME 2 (OMIM:619016)
Gene: SREBF1
Phenotype: Weight loss (HP:0001824)
Associated disease: HSCR; Hirschsprung disease; Colonic aganglionosis; Aganglionic megacolon; Congenital intestinal aganglionosis (ORPHA:388)
Gene: SREBF1
Phenotype: Esotropia (HP:0000565)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SREBF1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Gene: SRF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SRF
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SRF
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SRF
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SRF
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SRF
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SRP19
Phenotype: Pyoderma gangrenosum (HP:0025452)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Pharyngitis (HP:0025439)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Diarrhea (HP:0002014)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Pneumonia (HP:0002090)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Hemangioma (HP:0001028)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Cellulitis (HP:0100658)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Fever (HP:0001945)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Leukemia (HP:0001909)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Periodontitis (HP:0000704)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Osteopenia (HP:0000938)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Gingivitis (HP:0000230)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Rhinitis (HP:0012384)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Increased total monocyte count (HP:0012311)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Recurrent aphthous stomatitis (HP:0011107)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP19
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Gene: SRP54
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Steatorrhea (HP:0002570)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Steatorrhea (HP:0002570)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Bone marrow arrest at the promyelocytic stage (HP:0033607)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Specific learning disability (HP:0001328)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Recurrent infections (HP:0002719)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Ovoid vertebral bodies (HP:0003300)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Respiratory distress (HP:0002098)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Proximal femoral metaphyseal irregularity (HP:0003411)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Persistence of hemoglobin F (HP:0011904)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Abnormal circulating immunoglobulin concentration (HP:0010701)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Metaphyseal sclerosis (HP:0004979)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT (OMIM:618752)
Gene: SRP54
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Anemia (HP:0001903)
Associated disease: SHWACHMAN-DIAMOND SYNDROME 1 (OMIM:260400)
Gene: SRP54
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SRP54
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SRP54
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)