TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormal chondrocyte morphology (HP:0032929)
Associated genes and diseases:
gene_symbol: FLNB
disease_id: OMIM:108720
disease_name: ATELOSTEOGENESIS, TYPE I
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
Phenotype: Myocardial late gadolinium enhancement (HP:4000004)
Associated genes and diseases:
gene_symbol: FHOD3
disease_id: OMIM:619402
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28
Phenotype: Formation of multiple pronuclei during fertilization (HP:4000008)
Associated genes and diseases:
gene_symbol: REC114
disease_id: OMIM:619176
disease_name: OOCYTE MATURATION DEFECT 10
Phenotype: Lacunar halos around chondrocytes (HP:0032930)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:256050
disease_name: ATELOSTEOGENESIS, TYPE II
Phenotype: Airway hyperresponsiveness (HP:0032933)
Associated genes and diseases:
gene_symbol: ALOX5
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
gene_symbol: CCL11
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
gene_symbol: TNF
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
gene_symbol: HNMT
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
gene_symbol: MUC7
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
gene_symbol: SCGB3A2
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
gene_symbol: HLA-G
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
gene_symbol: IL13
disease_id: OMIM:600807
disease_name: ASTHMA, SUSCEPTIBILITY TO
Phenotype: Spontaneous cerebrospinal fluid leak (HP:0032934)
Associated genes and diseases:
gene_symbol: CBS
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: IPO8
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: THSD4
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SKI
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ASPH
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: FBN2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: LOX
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: BGN
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: NPR2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: ABL1
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
gene_symbol: SMAD2
disease_id: OMIM:154700
disease_name: MARFAN SYNDROME
Phenotype: Intrusion symptom (HP:0032936)
Associated genes and diseases:
gene_symbol: CPOX
disease_id: ORPHA:79273
disease_name: Hereditary coproporphyria
Phenotype: Impaired renal tubular reabsorption of bicarbonate (HP:4000010)
Associated genes and diseases:
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
Phenotype: Anti-BP230 antibody positivity (HP:4000019)
Associated genes and diseases:
gene_symbol: HLA-DQB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
Phenotype: Insistence on sameness (HP:5200130)
Associated genes and diseases:
gene_symbol: GLRA2
disease_id: OMIM:301076
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE
gene_symbol: MECP2
disease_id: OMIM:300496
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
gene_symbol: NLGN4X
disease_id: OMIM:300495
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
gene_symbol: NLGN3
disease_id: OMIM:300425
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
gene_symbol: SNRPN
disease_id: OMIM:209850
disease_name: AUTISM
gene_symbol: FOXP1
disease_id: OMIM:613670
disease_name: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
Phenotype: Renal interstitial inflammation (HP:0032945)
Associated genes and diseases:
gene_symbol: RPGRIP1L
disease_id: OMIM:619113
disease_name: COACH SYNDROME 3
Phenotype: Anti-BP180 antibody positivity (HP:4000020)
Associated genes and diseases:
gene_symbol: HLA-DQB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:703
disease_name: Bullous pemphigoid
Phenotype: Anti-integrin antibody positivity (HP:4000025)
Associated genes and diseases:
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
Phenotype: Renal interstitial fibrosis (HP:0032948)
Associated genes and diseases:
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: DCDC2
disease_id: OMIM:616217
disease_name: NEPHRONOPHTHISIS 19
gene_symbol: RPGRIP1L
disease_id: OMIM:619113
disease_name: COACH SYNDROME 3
gene_symbol: ALG5
disease_id: OMIM:620056
disease_name: POLYCYSTIC KIDNEY DISEASE 7
gene_symbol: FAN1
disease_id: OMIM:614817
disease_name: INTERSTITIAL NEPHRITIS, KARYOMEGALIC
Phenotype: Abnormal renal tubular lumen morphology (HP:0032950)
Associated genes and diseases:
gene_symbol: CRB2
disease_id: OMIM:219730
disease_name: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: DCDC2
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: TMEM67
disease_id: ORPHA:84081
disease_name: Senior-Boichis syndrome
Boichis disease
Nephronophthisis-hepatic fibrosis syndrome
gene_symbol: SLC41A1
disease_id: OMIM:619468
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 2
Phenotype: Anti-reticulin antibody positivity (HP:4000030)
Associated genes and diseases:
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Anti-type VII collagen antibody (HP:4000031)
Associated genes and diseases:
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
Phenotype: Congenital hydrocele (HP:4000037)
Associated genes and diseases:
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
Phenotype: Reduced mucosal-associated invariant T cell proportion (HP:4000039)
Associated genes and diseases:
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
Phenotype: Interstitial emphysema (HP:0032965)
Associated genes and diseases:
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
Phenotype: Panacinar emphysema (HP:0032967)
Associated genes and diseases:
gene_symbol: SERPINA1
disease_id: OMIM:613490
disease_name: ALPHA-1-ANTITRYPSIN DEFICIENCY
Phenotype: AA amyloidosis (HP:4000041)
Associated genes and diseases:
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
Phenotype: Abnormal bronchoalveolar lavage fluid morphology (HP:0032973)
Associated genes and diseases:
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
gene_symbol: SFTPB
disease_id: ORPHA:217563
disease_name: Neonatal acute respiratory distress syndrome
Hyaline membrane disease
Neonatal RDS
Neonatal acute respiratory distress due to surfactant protein deficiency
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: CSF2RA
disease_id: OMIM:300770
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4
gene_symbol: CSF2RB
disease_id: OMIM:614370
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
gene_symbol: OAS1
disease_id: OMIM:618042
disease_name: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
gene_symbol: MARS1
disease_id: OMIM:615486
disease_name: INTERSTITIAL LUNG AND LIVER DISEASE
gene_symbol: ABCA3
disease_id: ORPHA:217563
disease_name: Neonatal acute respiratory distress syndrome
Hyaline membrane disease
Neonatal RDS
Neonatal acute respiratory distress due to surfactant protein deficiency
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: HLA-DRB1
disease_id: ORPHA:747
disease_name: Autoimmune pulmonary alveolar proteinosis
Autoimmune PAP
aPAP
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
gene_symbol: BTNL2
disease_id: OMIM:612387
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 2
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
gene_symbol: MUC5B
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPA2
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERC
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERT
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: COPA
disease_id: OMIM:616414
disease_name: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
Phenotype: Abnormal cellular composition of bronchoalveolar fluid (HP:0032974)
Associated genes and diseases:
gene_symbol: BTNL2
disease_id: OMIM:612387
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 2
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
gene_symbol: MUC5B
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPC
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPA2
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERC
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERT
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: COPA
disease_id: OMIM:616414
disease_name: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
Phenotype: Abnormal bronchoalveolar fluid protein level (HP:0032975)
Associated genes and diseases:
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
Phenotype: Elevated bronchoalveolar lavage fluid lymphocyte proportion (HP:0032976)
Associated genes and diseases:
gene_symbol: BTNL2
disease_id: OMIM:612387
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 2
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
Phenotype: Elevated bronchoalveolar lavage fluid neutrophil proportion (HP:0032977)
Associated genes and diseases:
gene_symbol: MUC5B
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPC
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPA2
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERC
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERT
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
Phenotype: Exanthem (HP:4000054)
Associated genes and diseases:
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TET2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: CBL
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: RUNX1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: EPB42
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SLC4A1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTB
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTA1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
Phenotype: Intestinal inflammation (HP:4000055)
Associated genes and diseases:
gene_symbol: DNASE2
disease_id: OMIM:619858
disease_name: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME
Phenotype: Abnormal apoptosis (HP:4000056)
Associated genes and diseases:
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
Phenotype: Decreased FasL-mediated apoptosis (HP:4000057)
Associated genes and diseases:
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
Phenotype: Hemosiderin-laden macrophages in bronchoalveolar fluid (HP:0032979)
Associated genes and diseases:
gene_symbol: COPA
disease_id: OMIM:616414
disease_name: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
Phenotype: Absent bronchoalveolar surfactant-protein C (HP:0032980)
Associated genes and diseases:
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
Phenotype: Absent bronchoalveolar dimeric surfactant-protein B (HP:0032981)
Associated genes and diseases:
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
Phenotype: Intraalveolar phospholipid accumulation (HP:0006517)
Associated genes and diseases:
gene_symbol: SFTPB
disease_id: OMIM:265120
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
gene_symbol: SFTPB
disease_id: ORPHA:217563
disease_name: Neonatal acute respiratory distress syndrome
Hyaline membrane disease
Neonatal RDS
Neonatal acute respiratory distress due to surfactant protein deficiency
gene_symbol: SLC7A7
disease_id: OMIM:222700
disease_name: LYSINURIC PROTEIN INTOLERANCE
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: CSF2RA
disease_id: OMIM:300770
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4
gene_symbol: CSF2RB
disease_id: OMIM:614370
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5
gene_symbol: OAS1
disease_id: OMIM:618042
disease_name: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
gene_symbol: MARS1
disease_id: OMIM:615486
disease_name: INTERSTITIAL LUNG AND LIVER DISEASE
gene_symbol: ABCA3
disease_id: ORPHA:217563
disease_name: Neonatal acute respiratory distress syndrome
Hyaline membrane disease
Neonatal RDS
Neonatal acute respiratory distress due to surfactant protein deficiency
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
gene_symbol: HLA-DRB1
disease_id: ORPHA:747
disease_name: Autoimmune pulmonary alveolar proteinosis
Autoimmune PAP
aPAP
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
Phenotype: Abnormal alveolar macrophage morphology (HP:0032984)
Associated genes and diseases:
gene_symbol: COPA
disease_id: OMIM:616414
disease_name: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
Phenotype: Elevated bronchoalveolar lavage fluid eosinophil proportion (HP:0032987)
Associated genes and diseases:
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
Phenotype: Abnormal pulmonary alveolar system development (HP:4000060)
Associated genes and diseases:
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: STRA6
disease_id: OMIM:601186
disease_name: MICROPHTHALMIA, SYNDROMIC 9
Phenotype: Pancreatic alpha-cell hyperplasia (HP:4000061)
Associated genes and diseases:
gene_symbol: GCGR
disease_id: OMIM:619290
disease_name: MAHVASH DISEASE
Phenotype: Delayed ability to roll over (HP:0032989)
Associated genes and diseases:
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: VPS35L
disease_id: OMIM:619135
disease_name: RITSCHER-SCHINZEL SYNDROME 3
gene_symbol: MRPS25
disease_id: OMIM:619025
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50
gene_symbol: YIF1B
disease_id: OMIM:619125
disease_name: KAYA-BARAKAT-MASSON SYNDROME
gene_symbol: TAF8
disease_id: OMIM:619972
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY
gene_symbol: SON
disease_id: OMIM:617140
disease_name: ZTTK SYNDROME
gene_symbol: CELF2
disease_id: OMIM:619561
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97
gene_symbol: ADCY5
disease_id: OMIM:619651
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA
gene_symbol: ATP6V0A1
disease_id: OMIM:619970
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104
gene_symbol: SLC31A1
disease_id: OMIM:620306
disease_name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: LMNA
disease_id: OMIM:613205
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
gene_symbol: VRK1
disease_id: OMIM:620542
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
gene_symbol: ACTA1
disease_id: OMIM:620278
disease_name: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT
gene_symbol: SLC25A12
disease_id: OMIM:612949
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 39
Phenotype: Abnormal iliac artery morphology (HP:4000066)
Associated genes and diseases:
gene_symbol: NT5E
disease_id: OMIM:211800
disease_name: CALCIFICATION OF JOINTS AND ARTERIES
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Iliac artery aneurysm (HP:4000067)
Associated genes and diseases:
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
Phenotype: Fixated interests (HP:4000070)
Associated genes and diseases:
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES
Phenotype: Pronoun reversal (HP:4000073)
Associated genes and diseases:
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
Phenotype: Use of another person's body to communicate (HP:4000076)
Associated genes and diseases:
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51