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Gene: Cftr MGI:88388

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
cystic fibrosis transmembrane conductance regulator
Synonyms:
Abcc7

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cftr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Cftr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Immunodeficiency With Defective T-Cell Response To Interleukin 1
Growth delay, Recurrent pneumonia, Recurrent otitis media OMIM:243110
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... OMIM:616022
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Nondisjunction
Decreased fertility OMIM:158250
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... ORPHA:131
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg... ORPHA:388
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho... OMIM:300988
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Resp... ORPHA:26790
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Pedal edema, Weight loss, Ascites ORPHA:168811
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... OMIM:608957
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Short stature, Neutropenia ORPHA:90023
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Necroti... OMIM:613860
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Cystic Fibrosis
Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li... ORPHA:586
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia, Recurrent infections OMIM:617014
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Parana Hard-Skin Syndrome
Severe postnatal growth retardation, Respiratory insufficiency OMIM:260530
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Vomi... ORPHA:2869
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Whim Syndrome 2
Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph... ORPHA:2032
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis... OMIM:616373
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Abnormal large int... ORPHA:2198
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Short stature, Neutropenia OMIM:610798
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Cholester... OMIM:600803
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... ORPHA:69663
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu... OMIM:616371
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... OMIM:602347
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Hepatomegaly, Abdominal colic, Mechanical ileus, Functional intestinal obstr... ORPHA:100079
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Test... ORPHA:83469
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Secondary Short Bowel Syndrome
Villous atrophy, Vomiting, Abnormal small intestine morphology, Constipation, Primary hypothyroid... ORPHA:95427
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Wolman Disease
Nausea and vomiting, Hepatomegaly, Cachexia, Abdominal distention, Splenomegaly, Malnutrition, Es... ORPHA:75233
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na... OMIM:615214
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Ovarian Dysgenesis 5
Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ... OMIM:617690
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... OMIM:612444
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Idiopathic Achalasia
Wheezing, Malnutrition, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Recurrent aspirat... ORPHA:930
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... OMIM:613812
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... OMIM:193670
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Ppoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... ORPHA:103907
Immunodeficiency 104
Pneumonia, Eczema, Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasi... OMIM:608971
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Weight loss ORPHA:52416
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Dietary Iron Overload Disease
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, E... ORPHA:139507
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Abdominal pain, Rectal prolapse, Bili... OMIM:175200
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Abdominal pain, Hypothyroidism, Diarr... OMIM:226300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Severe infection, Chronic diarrhea, Ileus, Hepatitis... OMIM:304790
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Vomiting, Co... ORPHA:810
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aganglionic megaco... ORPHA:897
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Abdominal pain, Increa... ORPHA:343
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Severe infec... ORPHA:2686
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal d... ORPHA:314473
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Apnea, Meconium ileus, Feeding difficulties OMIM:617239
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... OMIM:616740
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... ORPHA:100086
Grfoma
Poor appetite, Anorexia, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Hepa... ORPHA:97261
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... OMIM:243150
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Colitis... ORPHA:37042
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Diethylstilbestrol Syndrome
Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit... ORPHA:1916
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... ORPHA:79302
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... OMIM:619445
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... OMIM:614172
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... ORPHA:298
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... OMIM:601346
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... OMIM:615710
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... ORPHA:679
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
46,Xx Gonadal Dysgenesis
Streak ovary, Short stature, Premature ovarian insufficiency, Increased circulating gonadotropin ... ORPHA:243
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:613470
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency OMIM:178550
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Protein-losing enter... OMIM:615863
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Cachexia, Ileus, Constipation ORPHA:52503
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, C... ORPHA:137686
Somatostatinoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97283
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Dyspnea, Ga... ORPHA:67
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Gastrointestinal Stromal Tumor
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, ... ORPHA:44890
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... OMIM:619220
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... ORPHA:3032
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... ORPHA:2688
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Secondary Intestinal Lymphangiectasia
Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrict... ORPHA:90363
Satoyoshi Syndrome
Short stature, Malabsorption, Diarrhea, Hypoplasia of the uterus, Amenorrhea OMIM:600705
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Neutropenia, Chronic Familial
Periodontitis, Neutropenia OMIM:162700
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Variant Abeta2M Amyloidosis
Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido... ORPHA:314652
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag... ORPHA:69665
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Estrogen Resistance
Increased circulating osteocalcin level, Acne, Hyperinsulinemia, Increased serum estradiol, Prima... OMIM:615363
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Cystic Disease Of Lung
Multiple pulmonary cysts, Spontaneous neonatal pneumothorax, Recurrent infections OMIM:219600
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... ORPHA:103910
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... OMIM:613500
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... OMIM:269840
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diar... OMIM:614602
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Müllerian Aplasia And Hyperandrogenism
Short stature, Acne, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased serum ... ORPHA:247768
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia OMIM:247800
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis OMIM:235700
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, El... ORPHA:90038
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... ORPHA:85450
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Infantile Myofibromatosis
Neoplasm of the pancreas, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophagea... ORPHA:2591
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... ORPHA:342
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Seckel Syndrome 7
Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra... OMIM:614851
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Glucagonoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97280
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Short stature, Abdominal distenti... ORPHA:369
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Sever... OMIM:617638
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Weight loss, Arth... ORPHA:42642
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... ORPHA:30391
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis OMIM:266200
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo... OMIM:612387
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent upper respiratory tract infections... OMIM:600802
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus, Failure to thrive, Dysphagia OMIM:613559
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... OMIM:619707
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Liver abscess, Psoriasiform dermatitis, Pneumonia, Allergic r... ORPHA:183675
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp... OMIM:614470
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, T lymphocytopenia, C... OMIM:601457
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Hydatidiform Mole
Nausea and vomiting, Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Chylous Ascites
Ascites, Abnormal intestine morphology, Pancreatitis ORPHA:1160
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Intestinal obstruction, Sinusitis, Myositis... ORPHA:183
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Diarrhea,... OMIM:211600
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Skin rash, Abdominal pain, Orchitis, S... ORPHA:32960
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Primary Ciliary Dyskinesia
Male infertility, Nasal polyposis, Intestinal malrotation, Abnormal sperm motility, Female infert... ORPHA:244
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Cholestasis, Ascites, Protein-losin... OMIM:608104
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Abdominal pain, Asthma, Weight loss ORPHA:449400
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... ORPHA:93941
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchi... OMIM:300219
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Abnormality of the parathy... ORPHA:2552
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Portal hypertension, Pulmonary embo... ORPHA:774
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomat... OMIM:175500
Jejunal Atresia
Jejunal atresia OMIM:243600
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Jaundice, R... OMIM:615512
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-losing enteropathy,... OMIM:602579
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obli... OMIM:615518
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus... OMIM:613493
Lipoid Proteinosis
Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of the gingiva, Thic... ORPHA:530
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Pyloric stenosis, Splenomegaly, Ileus, Recurrent pneumonia, Feeding difficulties, R... OMIM:613327
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropic hormone excess, Exertional ... ORPHA:100083
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Ascites, Abnorm... ORPHA:314478
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Decreased ... OMIM:617092
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... OMIM:614935
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia OMIM:606764
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Short stature, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... OMIM:603041
Genetic Steroid-Resistant Nephrotic Syndrome
Edema, Minimal change glomerulonephritis, Periorbital edema, Abdominal pain, Peritonitis, Hypoalb... ORPHA:656
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Cortisone Reductase Deficiency 1
Precocious puberty, Acne, Infertility, Oligomenorrhea OMIM:604931
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Edema, Minimal change glomerulonephritis, Periorbital edema, Abdominal pain... ORPHA:567548
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:66628
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Respiratory paralysis, Vomiting, Constipation, Hepatoc... OMIM:176000
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cough, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Whe... OMIM:613490
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumon... ORPHA:781
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Edema, Abdominal distention, Diarrhea, Peritonitis, Bloo... ORPHA:391673
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... OMIM:607361
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, N... OMIM:615285
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... OMIM:619351
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, H... ORPHA:100025
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutr... OMIM:266265
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... ORPHA:229717
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Recu... ORPHA:179494
Estrogen Resistance Syndrome
Acne, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary... ORPHA:785
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Erysipelas, Abdominal pain OMIM:134610
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... OMIM:300310
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Abdominal... ORPHA:160
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Decreased serum leptin, Recurrent upper respiratory tract infections, R... OMIM:614962
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency... OMIM:240300
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Neutropenia in presence of anti-neutropil antibodies, Sepsis, Mening... ORPHA:464370
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... ORPHA:2070
Sanjad-Sakati Syndrome
Hypoparathyroidism, Recurrent respiratory infections, Intestinal obstruction, Hypoplasia of penis... ORPHA:2323
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Aphthous ulcer, Diarrhea, Per... OMIM:249100
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti... ORPHA:90003
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Asthma, Chronic ... OMIM:601675
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting, Failure to... OMIM:300352
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Mala... ORPHA:3452
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurr... OMIM:301082
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Chronic bronchitis, Absent outer dynein arms, ... OMIM:616037
Felty Syndrome
Episcleritis, Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent urinary tract ... ORPHA:47612
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... OMIM:616414
Riddle Syndrome
Short stature, Pulmonary fibrosis OMIM:611943
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... OMIM:607626
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Cleft lip, Obesity, Cleft palate, Hepatosplenomegaly, Chronic constipation, Everted... OMIM:301066
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Feeding difficulties in infancy, Splenomegaly, Secretory diarrhea, En... OMIM:616050
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... OMIM:208540
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Athyreosis
Short stature, Abdominal distention, Feeding difficulties, Growth delay, Macroglossia, Constipati... ORPHA:95713
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Immunodeficiency 77
Gastroparesis, Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic p... OMIM:619223
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Recurrent bac... OMIM:601495
Listeriosis
Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephal... ORPHA:533
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of cla... OMIM:619126
Chylomicron Retention Disease
Elevated hepatic transaminase, Abdominal distention, Diarrhea, Growth delay, Fat malabsorption, V... ORPHA:71
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Crackles,... ORPHA:2902
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Christianson Syndrome
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Inappropriate laughter, Dysph... ORPHA:85278
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... OMIM:212840
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Combined Oxidative Phosphorylation Defect Type 7
Paralytic ileus, Failure to thrive, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia ORPHA:254930
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... ORPHA:397596
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Familial Pancreatic Carcinoma
Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intesti... ORPHA:1333
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... OMIM:615387
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Recurrent respiratory infections, Protein-losing enteropathy OMIM:619063
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro... OMIM:612692
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Dyspnea, Erythroid hypopla... ORPHA:98826
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... OMIM:301078
Porphyria Variegata
Abdominal pain, Ileus, Abnormality of the liver, Respiratory paralysis, Constipation, Hepatocellu... ORPHA:79473
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abdominal pain, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis,... ORPHA:438274
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal... OMIM:300048
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ileus, High palate OMIM:620156
Meckel Syndrome, Type 2
Bile duct proliferation, Intestinal malrotation, Cleft palate OMIM:603194
Pai Syndrome
Nasal polyposis, Median cleft lip, Depressed nasal bridge, Cleft palate, Abnormal oral frenulum m... ORPHA:1993
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to... OMIM:612075
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Gout, Recurrent infections, Neutropenia, Intrauterine growth retardation, Anemia OMIM:617056
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... OMIM:155310
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Severe short stature, Recurrent respiratory infections, Neutropenia ORPHA:2643
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis OMIM:614328
Thyroid Hemiagenesis
Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation ORPHA:95719
Reticular Dysgenesis
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive ORPHA:33355
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... OMIM:607676
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ... OMIM:154230
Metachromatic Leukodystrophy
Ataxia, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal ga... ORPHA:512
Perlman Syndrome
Hepatomegaly, Anteverted nares, High, narrow palate, Cryptorchidism, Short nose, Abnormal pancrea... ORPHA:2849
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... OMIM:606528
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia OMIM:612563
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Crackles, Dyspnea, Decreased DLCO, Gastroesophageal reflux, Pulmonary fibrosis, Cough, Reticular ... OMIM:614742
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased... ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Growth delay, Restrictive ventilatory defect, Pulmonary fibrosis, Delayed puberty, Erysipelas OMIM:615704
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... OMIM:613027
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... ORPHA:99429
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Diarrhea, Hepatic fibrosis... ORPHA:79319
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatit... ORPHA:169160
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, W... ORPHA:50251
Aspergillosis
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... ORPHA:1163
Nephrotic Syndrome, Type 1
Neonatal respiratory distress, Small for gestational age, Abdominal distention, Pyloric stenosis,... OMIM:256300
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyrotoxicosis w... ORPHA:64744
Glycogen Storage Disease Xii
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... OMIM:611881
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Median cleft lip, High palate, Bifid uvula OMIM:155145
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Nonproductive cough, Lymphadenitis, Sepsis, Vomiti... ORPHA:31204
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis, Respiratory insufficiency, Dysphagia OMIM:618230
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Portal hypertens... OMIM:610199
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Colonic Atresia
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... ORPHA:1198
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Poliomyelitis
Respiratory failure requiring assisted ventilation, Anorexia, Meningitis, Paralytic ileus, Respir... ORPHA:2912
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... OMIM:613807
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder ORPHA:309271
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Osteomyelitis, Skin rash, Thromb... ORPHA:47
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large for gestational age, Feeding difficulties in infancy, Abdominal diste... ORPHA:226313
Riboflavin Transporter Deficiency
Cachexia, Aggressive behavior, Respiratory insufficiency, Dysphagia ORPHA:97229
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype... ORPHA:480520
Rett Syndrome
Failure to thrive, Abnormal pattern of respiration, Cholecystitis ORPHA:778
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Pulmonary Blastoma
Weight loss, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Sialuria
Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, High, narrow palate, Wide ... ORPHA:3166
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Thrombocytopenia 5
Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... OMIM:616216
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... ORPHA:83471
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Chronic... ORPHA:75564
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Cough, Chronic ot... ORPHA:900
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Sepsis, Recurrent infections, Respir... ORPHA:79327
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P... ORPHA:70588
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity OMIM:103200
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respiratory insuffici... ORPHA:79276
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Renpenning Syndrome
Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Decreased testic... ORPHA:3242
Mirizzi Syndrome
Elevated hepatic transaminase, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pancreatitis, J... ORPHA:521219
Meckel Syndrome, Type 5
Bile duct proliferation, Cleft palate, Cleft upper lip OMIM:611561
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... ORPHA:3440
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt... OMIM:229050
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis... ORPHA:210136
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti... ORPHA:398063
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Cholecystitis, Sialadenitis, Abdominal pain, Abnorma... ORPHA:449395
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Vom... OMIM:619991
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Myositis, Pneumonia, Maculopapular exanthema, Productive cou... ORPHA:228119
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... ORPHA:562639
Melioidosis
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... ORPHA:31202
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Gastropares... ORPHA:85443
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Jaundice, Diarrhea, He... ORPHA:2331
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Short stature, Secondary amenorrhea, Premature pubarche OMIM:612847
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Abnormality of the liver, Abnormal parotid gland morpholog... ORPHA:252164
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Thrombocytopenia, Sepsis, Growth delay, Neutropenia, Pancreatitis, Anemia ORPHA:289916
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... ORPHA:399808
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Short stature, Eczema, Abdominal pain, Celiac disease, Abdominal d... OMIM:212750
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss, Gro... ORPHA:79238
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Recurrent pharyngitis, Fulminant... OMIM:308240
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency 55
Absent natural killer cells, Short stature, Eczema, Recurrent skin infections, Postnatal growth r... OMIM:617827
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Short stature, Pneumonia, Enteroviral dermatomyosi... OMIM:307200
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Tenesmus, Hematochezia, Chronic constipation, Epis... ORPHA:209964
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Postnatal growth retardation, Celiac disease, Thyroiditis, Recurrent infec... OMIM:618985
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Feingold Syndrome 2
Postnatal growth retardation, Short stature, Intestinal atresia OMIM:614326
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon ORPHA:163746
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Recurrent herpes, Short stature, Pneumonia, Eczema, Splenomeg... OMIM:607271
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Cachexia ORPHA:1438
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Tetrasomy 12P
Short stature, Cachexia, Abnormal soft palate morphology, Hypohidrosis, Anal atresia ORPHA:884
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... OMIM:620197
Qazi-Markouizos Syndrome
Prominent nasal bridge, High, narrow palate, Abdominal distention, Cryptorchidism, Hypoplasia of ... ORPHA:3010
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte... OMIM:300400
Metachromatic Leukodystrophy
Gallbladder dysfunction, Cholecystitis OMIM:250100
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Gaisböck Syndrome
Peptic ulcer, Overweight, Splenomegaly, Dyspnea, Obesity, Gout, Cholecystitis ORPHA:90041
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... OMIM:278000
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... OMIM:619057
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Bronchiectasi... OMIM:606763
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Microlissencephaly
Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen... ORPHA:1083
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pain, Chronic di... ORPHA:90362
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Colitis, Pulmonary fibros... OMIM:618394
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Anosmia, Bronch... OMIM:244400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Hepatosplenomegaly, Increased ... OMIM:618982
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymp... OMIM:235255
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Steatorrhea OMIM:607748
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... OMIM:300755
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Pure... ORPHA:436159
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... ORPHA:436252
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Hematochezia, Cholestatic liver dise... ORPHA:79095
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Prostatiti... ORPHA:449432
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... ORPHA:210122
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional dyspnea ORPHA:254361
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia ORPHA:220402
Brooke-Spiegler Syndrome
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... ORPHA:79493
Netherton Syndrome
Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Chronic rhinitis, ... OMIM:256500
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Myotonic Dystrophy 1
Feeding difficulties in infancy, Hypogonadism, Dysphagia, Cholelithiasis, Testicular atrophy OMIM:160900
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... ORPHA:100085
Meckel Syndrome, Type 6
Absent gallbladder, Cleft upper lip, Cleft palate, Cystic liver disease, Bile duct proliferation,... OMIM:612284
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Autosomal Erythropoietic Protoporphyria
Eczema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, A... ORPHA:100924
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... OMIM:619281
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Esophageal varix, Bi... OMIM:215600
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ... ORPHA:2410
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Immunodeficiency 31C
Hepatomegaly, Villous atrophy, Chronic oral candidiasis, Osteomyelitis, Eczema, Recurrent respira... OMIM:614162
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia OMIM:300752
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Respiratory distress, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, ... ORPHA:79312
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... OMIM:619446
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia, Short stature, Constipation, Gastroesophageal ref... OMIM:312750
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra... OMIM:158330
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... ORPHA:811
Crimean-Congo Hemorrhagic Fever
Anorexia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Abdominal pain, Epididy... ORPHA:99827
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia OMIM:615935
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens OMIM:277180
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Gastroesophageal reflux, High palate, Vomiting, Cough, Emphysema, Hepatic steatosis, P... OMIM:613658
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Ski... ORPHA:276
Neuropathy, Congenital Hypomyelinating, 3
Cachexia, Narrow palate, Respiratory insufficiency, Respiratory failure, High palate, Gastroesoph... OMIM:618186
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... OMIM:232700
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Cholecystitis ORPHA:309256
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Feeding difficulties, Respiratory failu... OMIM:618329
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Abdominal pain, Hepatosplenomegaly,... ORPHA:275761
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Feeding difficulties in infancy, Pustule, Glucocortocoid-insensitive primary hyper... ORPHA:171876
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Hyperhidrosis, Decreased body weight, Recurrent i... ORPHA:51890
Silver-Russell Syndrome
Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth retardation, Cryptorchidi... ORPHA:813
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Short stature, Dyspnea, Abnormal pulmonary interstitial morphol... OMIM:607616
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Vomiting... OMIM:619510
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's... OMIM:619705
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency, Feeding difficulties ORPHA:157973
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Hypercholesterole... ORPHA:96184
Antisynthetase Syndrome
Recurrent respiratory infections, Myositis, Skin rash, Cough, Myocarditis, Xerostomia, Abnormal p... ORPHA:81
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect... OMIM:242700
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Tracheoesophageal fistula, St... ORPHA:142
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Abdominal pain OMIM:118830
Toxic Epidermal Necrolysis
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Respiratory distress, El... ORPHA:537
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Broad nasal tip, Abdominal distention, Cryptorchidism, Pa... ORPHA:1655
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All... OMIM:615816
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233300
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Short stature, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurre... OMIM:618935
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Eczema, Hemolytic anemia OMIM:177000
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Failure to thrive, Splenomegaly... OMIM:276700
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Short stature, Bronchiectasis, Recurrent infections... ORPHA:477814
Meier-Gorlin Syndrome 7
Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala... OMIM:617063
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho... ORPHA:36238
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, Gastroesophageal reflux, High palate, Widely spaced... OMIM:618268
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi... OMIM:202010
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Short... OMIM:615139
Dextrocardia
Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal situs, Pancreatic hyp... ORPHA:1666
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Br... OMIM:620233
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Cholecystitis ORPHA:309263
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Chronic rhinitis, Immotile sperm, Absent respiratory ciliary axoneme ... OMIM:242670
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... ORPHA:90117
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Short stature, Neutropenia OMIM:618752
Muir-Torre Syndrome
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... ORPHA:587
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... OMIM:618063
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Acrocephalopolydactyly
Short nose, Depressed nasal ridge, Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Thyroid Hypoplasia
Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Hypothyr... ORPHA:95720
Idiopathic Pulmonary Hemosiderosis
Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dys... ORPHA:99931
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Diarrh... ORPHA:79076
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention, Polycystic liver disease, Ascites OMIM:174050
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Gonadoblastoma
Abdominal pain, Female external genitalia in individual with 46,XY karyotype, Abdominal distentio... ORPHA:206484
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation OMIM:610688
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... ORPHA:2470
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Short-segment aganglionic megacolon, Portal hypertension, Cryptorchidism, ... OMIM:609136
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Seizures, Cortical Blindness, And Microcephaly Syndrome
Growth delay, Short stature, Bronchiectasis OMIM:616632
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo... OMIM:616222
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Vomiting, Decrease... ORPHA:42
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Abdominal pain, Dyspnea, Abdominal distention, Pleural effusion ORPHA:48686
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Prema... ORPHA:3464
Hereditary Mucoepithelial Dysplasia
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... ORPHA:1839
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymph... OMIM:618108
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Respiratory insufficiency, Malabsorption ORPHA:1954
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Desquamative int... OMIM:615952
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Keratoconjunctivitis s... ORPHA:309031
Bardet-Biedl Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Diencephalic Syndrome
Hyperhidrosis, Cachexia, Decreased body weight ORPHA:1672
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Episodic... ORPHA:251992
Pancreatitis, Hereditary
Abdominal pain, Pancreatitis, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, Pancreatic ca... OMIM:167800
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Recurrent infections, Neutropenia, ... ORPHA:88
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Thin upper lip vermilion, Prominent nasal bridge, Diastema, Cryptorchidism, Recurrent upper respi... OMIM:300534
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In... OMIM:601847
Immunodeficiency 36 With Lymphoproliferation
Short stature, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections... OMIM:616005
Alg6-Cdg
Jaundice, Feeding difficulties, Macroglossia, Abnormality of the liver, Protein-losing enteropath... ORPHA:79320
Meckel Syndrome, Type 4
Bile duct proliferation, Cleft palate OMIM:611134
Cach Syndrome
Hepatosplenomegaly, Feeding difficulties, Growth delay, Vomiting, Optic neuritis, Dysphagia, Intr... ORPHA:135
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ... ORPHA:99772
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Macroglossia, Arthritis, Abnormal int... ORPHA:85446
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Fanconi Anemia, Complementation Group V
Anemia, Short stature, Thrombocytopenia, Neutropenia OMIM:617243
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Abdominal distention, Ga... ORPHA:90051
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... OMIM:607765
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Anteverted nares, Elevated circulating aspartate aminotr... OMIM:618528
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Obesity, Pineal cyst, Cholecys... ORPHA:98908
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Pelvic mass, Anorexia, Abdominal distention, Jaund... ORPHA:370348
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Vomiting, Cirrhosis, Cough,... ORPHA:1546
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, Respiratory insufficiency due to muscle weakness, High, narrow palate,... ORPHA:98897
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Depressed nasal bridge, Cryptorchidism, Wide mouth, Gait disturbance, Protub... ORPHA:457485
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Anorexia, Dyspnea, Iridocyclitis, Splenomegaly, Enlarged lacrimal glands, Bronchiec... OMIM:181000
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Amed Syndrome, Digenic
Hypoplasia of the uterus, Short stature, Adrenal hypoplasia OMIM:619151
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Tuberculosis
Weight loss, Cough ORPHA:3389
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Intrauteri... OMIM:617914
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Schimke Immuno-Osseous Dysplasia
Small for gestational age, Short stature, Abnormality of thyroid physiology, Minimal change glome... ORPHA:1830
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Hyperhidrosis, Weight loss ORPHA:86893
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hyperactivity, Restlessne... ORPHA:247585
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi... OMIM:147060
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Respiratory insufficiency, Duodenal stenosis ORPHA:1759
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Lynch Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal polyposis... ORPHA:144
Mirage Syndrome
Adrenal hypoplasia, Sepsis, Gastroesophageal reflux, Microphallus, Aspiration pneumonia, Achalasi... OMIM:617053
Bloom Syndrome
Recurrent herpes, Bronchitis, Poor appetite, Severe varicella zoster infection, Uveitis, Gastroes... ORPHA:125
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pneumonia, Pure red c... OMIM:613179
Renal Agenesis
Absent vas deferens, Pulmonary hypoplasia, Anal atresia, Aplasia/hypoplasia of the uterus ORPHA:411709
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Immunodeficiency 33
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... OMIM:300636
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, ... ORPHA:2298
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Oral ulcer, Uveitis, Granulomatosis, Concave nasal ridge, Con... OMIM:608710
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Neoplas... ORPHA:158057
Meckel Syndrome, Type 7
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... OMIM:267010
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Invasive parasitic infection, Opportunistic bacterial infection, Invasive fungal in... ORPHA:158048
Acrodermatitis Enteropathica
Short stature, Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furr... ORPHA:37
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Feeding difficulties, Protein-losing enteropathy, Spontaneous pneumothorax OMIM:618154
Retinitis Pigmentosa 89
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... OMIM:618955
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Chronic diarrhea, Elevated circulating alanine aminot... OMIM:618805
Sarcoidosis
Abnormal nasal mucosa morphology, Increased T cell count, Uveitis, Tubulointerstitial nephritis, ... ORPHA:797
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ... ORPHA:83617
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Stevens-Johnson Syndrome
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Elevated hepatic transam... ORPHA:36426
Braddock Syndrome
Neonatal respiratory distress, Short stature, Pulmonary arterial hypertension, Pulmonary fibrosis... ORPHA:52047
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Eosinophilia, Erythema nodosum, Abnormality of... ORPHA:228123
Chronic Hiccup
Malnutrition, Abnormal eating behavior, Weight loss ORPHA:396
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation, Intrauterine growth r... OMIM:616801
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Meningitis, Leukocy... ORPHA:292
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Hemochromatosis, Type 3
Arthritis, Lymphopenia, Anemia, Neutropenia OMIM:604250
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Abdominal pain, Portal hypertensi... ORPHA:98850
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Feeding difficulties in infancy, Sple... OMIM:261515
Vipoma
Poor appetite, Anorexia, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Failure to thrive, Pancreatic fibro... OMIM:557000
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... OMIM:606367
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... ORPHA:100082
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Absent c... OMIM:620282
Immunodeficiency 54
Recurrent respiratory infections, Short stature, Recurrent viral infections, Postnatal growth ret... OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia, Intrauterine... OMIM:618253
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Poor appetite, Malab... OMIM:227810
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombocytopenia, Pulmonary h... OMIM:603585
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Neonatal death... OMIM:609313
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Abdominal pain, Cardiomegaly, Splenomegaly, Jaundice, Splenic inf... OMIM:603903
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated circulating ala... OMIM:619386
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... ORPHA:103918
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... ORPHA:572333
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ... ORPHA:254531
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominent nose, Wide nasal bridge, Cholelithiasis, Hepatic failure... OMIM:614886
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundic... OMIM:214900
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Bowel urgency, Abdominal pain, Anorexia, Lack of bow... ORPHA:100080
Cimdag Syndrome
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Feeding difficulties, Hypogonadism, Chole... OMIM:619273
Propionic Acidemia
Hepatomegaly, Apnea, Short stature, Poor appetite, Eczema, Feeding difficulties in infancy, Tachy... OMIM:606054
Trichohepatoenteric Syndrome 1
Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age, Narrow mouth, Abnorm... OMIM:222470
Basel-Vanagaite-Smirin-Yosef Syndrome
Prominent nasal tip, Tented upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, High,... ORPHA:464738
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal distention, Jaund... ORPHA:186
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:605479
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Medullary Thyroid Carcinoma
Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Hyperhi... ORPHA:1332
Familial Colorectal Cancer Type X
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:440437
Dubin-Johnson Syndrome
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... ORPHA:234
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Abdominal d... ORPHA:2604
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Meningitis, Leukocyt... ORPHA:3392
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Colitis, ... ORPHA:3260
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Sialuria
Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Wide nasal bridge, Macroglossia, High palat... OMIM:269921
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hepatitis, Sepsis, Chronic hepatit... OMIM:308230
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Self-injuriou... ORPHA:371364
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, De... OMIM:232220
Immunodeficiency 12
Skin rash, Recurrent viral infections, Cheilitis, Bronchiectasis, Recurrent bacterial infections,... OMIM:615468
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re... OMIM:620326
Immunodeficiency 40
Rectal fistula, Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumon... OMIM:616433
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead... OMIM:256810
Omenn Syndrome
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Weight loss, Vomiting, Pancreatic calci... ORPHA:677
Donohue Syndrome
Postnatal growth retardation, Abdominal distention, Cholestasis, Ovarian cyst, Hepatic fibrosis, ... OMIM:246200
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Thin upper lip vermilion, Ataxia, Aplasia/Hypoplasia of the pancreas, Abnormal live... ORPHA:456312
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Chronic Atrial And Intestinal Dysrhythmia
Failure to thrive, Intestinal pseudo-obstruction, Decreased body weight OMIM:616201
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... ORPHA:528
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Cough, Dyspnea, Esophageal neoplasm, Keratitis, ... ORPHA:1018
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... ORPHA:232
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Pericardi... OMIM:212065
Acute Transverse Myelitis
Invasive parasitic infection, Gastroparesis, Severe viral infection, Paralytic ileus, Disseminate... ORPHA:139417
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Le... OMIM:619652
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... OMIM:241080
Meckel Syndrome, Type 8
Cleft upper lip, Abdominal distention, Depressed nasal ridge, Cleft palate, Short nose, Enlarged ... OMIM:613885
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Growth delay, Intrauterine ... ORPHA:217346
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... OMIM:612541
Distal Duplication 5Q
Eczema, Prominent nasal bridge, Carious teeth, Cryptorchidism, Thin vermilion border, Aplasia/Hyp... ORPHA:96097
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Histiocytosis-Lymphadenopathy Plus Syndrome
Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ... OMIM:602782
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hypoventilation, Hepatomegaly, Elevated hepatic transaminase, Failure to t... OMIM:203700
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia... ORPHA:90790
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Abdominal ... ORPHA:3202
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... ORPHA:143
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Episodic tachypnea, Feeding difficulties, Apneic episodes in infancy, Dysphagia, Meckel diverticu... ORPHA:163961
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Acne, Recurrent skin infections, Aplastic anemia, Erythema nodosum, S... OMIM:300635
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Respiratory insufficiency, Weight loss, Neopl... ORPHA:69077
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... ORPHA:1414
Poikiloderma With Neutropenia
Short stature, Skin rash, Recurrent bronchopulmonary infections, Splenomegaly, Recurrent pneumoni... OMIM:604173
Hereditary Central Diabetes Insipidus
Diarrhea, Weight loss, Growth delay, Vomiting, Polydipsia ORPHA:30925
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98754
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Elevated circulatin... OMIM:619573
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... ORPHA:157798
Crigler-Najjar Syndrome Type 1
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice ORPHA:79234
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... ORPHA:79303
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Gastritis, Skin rash, Dyspnea, Myocarditis, ... ORPHA:809
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Cryptorchidism, Agenesis of pulmonary vessels, Alveolar capi... OMIM:601186
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Restrictive ventilatory defect, Oral leukoplakia, Pulmonary fibrosis OMIM:619767
Behçet Disease
Myositis, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abdominal pain, Retrobulba... ORPHA:117
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Apla... OMIM:266810
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy OMIM:264270
Yao Syndrome
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Asthma, Diarrhea, ... OMIM:617321
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Diffuse Cutaneous Systemic Sclerosis
Malabsorption, Dyspnea, Xerostomia, Arthritis, Gastroesophageal reflux, Pulmonary fibrosis, Dysph... ORPHA:220393
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Cardiorespiratory arrest, Weight loss, Cough... ORPHA:188
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis OMIM:613496
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Graves Disease, Susceptibility To, 1
Hyperactivity, Increased circulating free T4 concentration, Abnormal abdomen morphology, Increase... OMIM:275000
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Short stature, Pneumonia, Malabsorption, Protruding tongue, Bronchiectasis, Macrogloss... OMIM:242860
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Anorexia, Oral ulcer, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Ab... OMIM:619381
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine ki... ORPHA:79240
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:98793
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intestinal malrotation, Exocrine pancreatic insufficiency, Biliary atresia, Feeding difficulties,... ORPHA:2255
Feingold Syndrome
Anteverted nares, Depressed nasal bridge, Esophageal atresia, Abnormality of the spleen, Orofacia... ORPHA:1305
Hermansky-Pudlak Syndrome 4
Epistaxis, Pulmonary fibrosis, Restrictive ventilatory defect OMIM:614073
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Osteomyelitis, Short stature, Abdominal distention, Arthritis, Septic arthritis, Fa... OMIM:619423
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... OMIM:214500
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Pneumothora... ORPHA:411703
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Pancreatitis, Abdominal pain OMIM:620137
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177904
Bohring-Opitz Syndrome
Anteverted nares, Depressed nasal bridge, Cardiomegaly, Feeding difficulties in infancy, Cleft li... ORPHA:97297
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Abnormality of the spleen, Diarrhea, Weight... ORPHA:33276
Fanconi-Bickel Syndrome
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, A... ORPHA:2088
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Abdominal pain, Abdominal distention, Irregular m... ORPHA:180229
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:177901
Letterer-Siwe Disease
Seborrheic dermatitis, Dyspnea, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Stomatitis, An... OMIM:246400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Splenomegaly, Feeding difficulties, Stridor, Gastroesophageal reflux,... OMIM:230900
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Short stature, Chronic pulm... OMIM:618131
Bone Marrow Failure Syndrome 5
Growth delay, Short stature, Oral leukoplakia, Pulmonary fibrosis OMIM:618165
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,... ORPHA:75234
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Recurrent infections, Intestinal pseudo-obstruction, Dysphagia OMIM:619780
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... ORPHA:264580
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... ORPHA:93552
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Recurrent pneumonia, Bili... OMIM:613610
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Anterior uveitis, Colitis, Ileal ulcer OMIM:616744
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Lymphopenia, Eczema, Autoimmune hemoly... OMIM:616100
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Interstitial Cystitis
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla... ORPHA:37202
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen... OMIM:612714
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Short stature, Cachexia, Aggressive behavior, Obesity, Hyperhidrosis, High palate,... ORPHA:85293
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Thyroiditis, Weight los... ORPHA:79078
Hereditary Bullous Dystrophy, Macular Type
Short stature, External genital hypoplasia, Pneumonia, Cryptorchidism, Growth delay, Decreased te... ORPHA:1867
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Trisomy 8P
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Malrotation of small bowel, Recurrent u... ORPHA:264450
Meckel Syndrome 12
Hypoplasia of the uterus, Intrauterine growth retardation, Bifid uvula, Vaginal atresia OMIM:616258
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... ORPHA:399
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Splenomegaly, Bloody diarrhe... ORPHA:84064
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Growth delay, Hyperald... OMIM:214700
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepato... ORPHA:50918
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent sinusitis, Colitis, Abnormal pulmonary interstitial morphology, Recurrent upper respira... OMIM:613101
Lead Poisoning
Small for gestational age, Skin rash, Anorexia, Abdominal pain, Abdominal distention, Asthma, Abn... ORPHA:330015
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
8P Inverted Duplication/Deletion Syndrome
Anteverted nares, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide nasal... ORPHA:96092
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Poor appetite, Anorexia, Splenomegaly, Respiratory insufficiency, Weight... ORPHA:391
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal pulmonary interstitial morphology, Respirator... ORPHA:732
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Short stature, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed ... OMIM:309801
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Cerebrotendinous Xanthomatosis
Ataxia, Diarrhea, Pseudobulbar paralysis, Difficulty walking, Cholelithiasis OMIM:213700
Infantile Krabbe Disease
Respiratory distress, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Respir... ORPHA:206436
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... ORPHA:567
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, BCGosis, Recurre... OMIM:619644
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Respiratory insufficie... OMIM:208500
Neurofibroma
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... ORPHA:252183
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Short stature, Abnormal pulmonary interst... OMIM:617180
Achondrogenesis, Type Ib
Abdominal distention, Stillbirth, Neonatal short-limb short stature, Respiratory insufficiency OMIM:600972
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Bowel urgency, Poor appetite, A... ORPHA:100075
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Orchitis, Keratitis, Retroperitoneal fibrosis, Abnormality of the anterio... ORPHA:449563
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Chronic infection, Leukoc... ORPHA:520
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
High palate, Pulmonary fibrosis, Short stature ORPHA:457240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic steatosis, Hepatomega... ORPHA:79259
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Absent vas deferens, Hypospadias, Pyloric stenosis, Abnormality of exocrine pancreas physiology, ... ORPHA:93111
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Cryptorchidism, Secreto... OMIM:618183
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulone... OMIM:619525
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia, R... OMIM:302060
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Riddle Syndrome
Short stature, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary ... ORPHA:420741
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal v... ORPHA:2072
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephro... OMIM:618999
Hypocalciuric Hypercalcemia, Familial, Type Ii
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer OMIM:145981
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepatic cholestasis, Hematochezia, Pr... OMIM:214950
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia ORPHA:1203
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Glossitis ORPHA:2221
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation ORPHA:1133
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Hyperhidrosis, Arthritis, Gastrointestina... ORPHA:3287
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti... ORPHA:70578
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Osteomyelitis, Hepatosplenomegaly, Panuveitis, Panniculitis, Optic neuritis, B ... OMIM:301081
Wilson Disease
Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hypoparathyroidism, Hepatomeg... OMIM:277900
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Cachexia, Abnormal large intestine morphology, Narrow palate... ORPHA:109
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoventilation, Abdominal distention, Feeding difficulties, Gastroesophageal reflux, Intrauterin... OMIM:620275
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Anorexia, Cachexia, Splenomegaly, Hepatosplenomegaly ORPHA:824
Alternating Hemiplegia Of Childhood
Respiratory distress, Abnormality of the gastrointestinal tract, Apnea, Anorexia, Oral-pharyngeal... ORPHA:2131
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Dyspnea, Retrobulbar optic neuritis, Erythema nodosum, Xerost... ORPHA:90340
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes... ORPHA:100078
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... OMIM:258360
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Mody
Elevated hemoglobin A1c, Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insuf... ORPHA:552
Ciliary Dyskinesia, Primary, 37
Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter OMIM:617577
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Bowel incontinence, Respiratory insufficiency ORPHA:702
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch... ORPHA:98813
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Rhizomelia, Submucous cleft hard palate, Disprop... OMIM:222765
Familial Adenomatous Polyposis
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest... ORPHA:733
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... ORPHA:293173
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short stature, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, G... OMIM:615866
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... OMIM:608233
Familial Chylomicronemia Syndrome
Nausea and vomiting, Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Episodic... ORPHA:444490
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En... ORPHA:391487
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... OMIM:618495
Orofaciodigital Syndrome Viii
Short stature, High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:300484
Adrenomyodystrophy
Short stature, Primary adrenal insufficiency, Abnormal intestine morphology, Failure to thrive, H... ORPHA:977
Folinic Acid-Responsive Seizures
Abdominal distention, Broad-based gait, Ataxia, Difficulty walking ORPHA:79097
Legionnaires Disease
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, My... ORPHA:549
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Bronchiectasis, Recurrent otit... OMIM:618523
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Delayed puberty, Gout, Growth delay, ... OMIM:232200
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Precocious puberty, Cryptorchidism, Recurrent otitis media, Anal atresia OMIM:619243
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Recurrent skin infections, Abdominal distention, Urinary bladder inflammatio... ORPHA:79403
Adrenal Hypoplasia, Congenital
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... OMIM:300200
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... OMIM:202110
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to thrive ORPHA:178029
Inverted Duplicated Chromosome 15 Syndrome
Precocious puberty, Cryptorchidism, Feeding difficulties, Growth delay, Gonadal dysgenesis, Hypog... ORPHA:3306
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Small for gestational age, Dysmenorrhea, Hypospadias, Postnatal growth retardation... ORPHA:397590
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... OMIM:119500
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Abdominal pain, Dyspnea, Atelectas... ORPHA:538
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Increased body weight, Clitoral hypoplasi... ORPHA:398069
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Short stature, Abdominal distention, Disproportionate short-trunk short sta... OMIM:277300
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Immunodeficiency 17
Recurrent respiratory infections, Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoper... OMIM:615607
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Absent gallbladder, Depressed nasal bridge, Elevated circulating alanine aminotransferase concent... OMIM:618500
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Urachal Cyst
Peritonitis, Elevated circulating C-reactive protein concentration, Abdominal pain ORPHA:488
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ... ORPHA:98905
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Growth delay, Normochromic anemia, Neutropenia, Pulmonary arterial hypertension, Throm... OMIM:614857
Prolactinoma
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed... ORPHA:2965
Gray Platelet Syndrome
Epistaxis, Abnormality of the menstrual cycle ORPHA:721
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocy... ORPHA:508542
Thyroid Ectopia
Short stature, Abdominal distention, Jaundice, Growth delay, Macroglossia, Constipation, Ectopic ... ORPHA:95712
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal pain, Transverse vaginal septum, Uterus didelphys, Prim... ORPHA:65681
Trisomy 10P
Absent gallbladder, Anteverted nares, Depressed nasal bridge, Abnormality of the nose, Orofacial ... ORPHA:171929
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Ovarian cyst, Menorrhagia, Epistaxis ORPHA:327
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Macrophage Activation Syndrome
Increased inflammatory response, Thrombocytopenia, Splenomegaly, Abnormal natural killer cell cou... ORPHA:158061
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Abdominal distention, Rectal atresi... OMIM:617666
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Abnormal external nose morphology, High palate, Solitary median maxillary cen... ORPHA:556955
Achondrogenesis Type 1A
Abdominal distention, Short nose, Anteverted nares, Long philtrum ORPHA:93299
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, D... OMIM:131100
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperp... ORPHA:99880
Nijmegen Breakage Syndrome
Anal stenosis, Short stature, Cachexia, Chronic diarrhea, Recurrent pneumonia, Anorectal anomaly,... ORPHA:647
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... ORPHA:1302
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Meningitis, Emphysema, Uveitis, Restrictive ventilatory defect,... ORPHA:36412
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Hypoparathyroidism, Decreased circulating cortisol level, Anorexia, Abdomina... ORPHA:199299
Pulmonary Alveolar Microlithiasis
Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T... ORPHA:60025
Diamond-Blackfan Anemia 7
Macrocytic anemia, Recurrent infections, Growth delay, Increased mean corpuscular volume, Esophag... OMIM:612562
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe B lymphocytopenia, ... OMIM:102700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis OMIM:611926
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop... ORPHA:35858
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Hijazi-Reis Syndrome
Recurrent respiratory infections, Recurrent ear infections, Postnatal growth retardation, Chronic... OMIM:301094
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Intestinal malrotation, Biliary atresia, Colon perforation, Pancreatic hypopl... OMIM:600001
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ... OMIM:614878
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Dysphagia, Delayed menarche, Hypothyroidism, Pancreatitis ORPHA:412057
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Recurrent infections, Growth delay, Leukop... OMIM:616271
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reye syndrome-like episodes, Dys... ORPHA:26791
Steinert Myotonic Dystrophy
Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased response to growth hormone s... ORPHA:273
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular exanthema, Thrombocytop... ORPHA:398124
Lathosterolosis
Elevated hepatic transaminase, Anteverted nares, Bilobate gallbladder, Increased mean platelet vo... OMIM:607330
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Bowel urgency, Poor appetite, Anorexia, Nonproductive cough, Dyspnea, As... ORPHA:97287
Methylmalonic Acidemia With Homocystinuria Type Cblf
Skin rash, Megaloblastic anemia, Recurrent infections, Growth delay, Neutropenia, Stomatitis, Int... ORPHA:79284
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Tubulointerstitial nephritis, Vomiting, Failure to thrive, Pa... OMIM:251000
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Anorexia, Vomiting, Leydig cell neoplasia, Hyponatremia, Im... ORPHA:361
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Alg9-Cdg
Thin upper lip vermilion, Villous atrophy, Hepatomegaly, Hepatic cysts, Asthma, Diarrhea, Wide mo... ORPHA:79328
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i... OMIM:602450
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Feeding difficulties in infancy, Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Classic Pantothenate Kinase-Associated Neurodegeneration
Dysphagia, Weight loss, Attention deficit hyperactivity disorder, Cough, Aspiration pneumonia ORPHA:216866
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Meckel Syndrome, Type 1
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Accessory spleen, Intestinal malrotation,... OMIM:249000
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... ORPHA:905
Aregenerative Anemia
Pancytopenia, Dyspnea, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion... ORPHA:101096
Mccune-Albright Syndrome
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... ORPHA:562
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Intrauterine growth retardation, Postnatal growth retardation, Feeding diffic... ORPHA:254525
Hermansky-Pudlak Syndrome 1
Epistaxis, Hematochezia, Restrictive ventilatory defect, Inflammation of the large intestine, Col... OMIM:203300
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Fatal Familial Insomnia
Apnea, Hyperhidrosis, Weight loss, Constipation, Dysphagia OMIM:600072
Reactive Arthritis
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth... ORPHA:29207
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... ORPHA:2796
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t... ORPHA:96179
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abdominal symptom, H... ORPHA:400
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Schimke Immunoosseous Dysplasia
Pancytopenia, Dyspnea, Thrombocytopenia, Disproportionate short-trunk short stature, Recurrent in... OMIM:242900
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficulties, Recurrent ... OMIM:616395
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis ORPHA:210548
Leprechaunism
Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Abdominal distention, Rectal prolap... ORPHA:508
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Depressed nasal bridge, Esophageal diverticulum, Hamartoma of to... OMIM:617925
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutrope... OMIM:607944
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... OMIM:200995
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Decreased nasal nitric oxide, Polysplenia, Chronic otitis media, Chronic ... OMIM:619608
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Pustule, Tachypnea, Pulmonary fibrosis, Pu... OMIM:615934
Shwachman-Diamond Syndrome 1
Respiratory distress, Acute myeloid leukemia, Neonatal respiratory distress, Pancytopenia, Short ... OMIM:260400
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Rhizomelia, Diarrhea, Respiratory insufficiency, Weight loss, ... ORPHA:1842
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Respiratory distress, Eczema, Anorexia, Tachypnea, Weight loss, Growth delay... ORPHA:79242
X-Linked Acrogigantism
Enlarged pituitary gland, Increased body mass index, Elevated circulating growth hormone concentr... ORPHA:300373
Flynn-Aird Syndrome
Primary adrenal insufficiency, Cachexia ORPHA:2047
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... OMIM:619487
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, Increased fecal coproporph... OMIM:263700
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Bohring-Opitz Syndrome
Bilateral cleft palate, Anteverted nares, Intestinal malrotation, Supernumerary nipple, Cleft upp... OMIM:605039
Evans Syndrome
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Neutropenia in pres... ORPHA:1959
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Choanal atresia, Underdeveloped nasal alae, Cryptor... ORPHA:163979
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Severe varicella zoster infectio... ORPHA:48435
Erythrokeratodermia Variabilis
Skin rash, Abnormal testis morphology, Short stature, Weight loss ORPHA:317
Craniofacioskeletal Syndrome
Absent gallbladder, Thin upper lip vermilion, Choanal atresia, Cryptorchidism, Cleft palate, Shor... OMIM:300712
Nephroblastoma
Neoplasm of the liver, Weight loss, Abdominal pain ORPHA:654
Trisomy 18
Short stature, Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Growth ... ORPHA:3380
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Weight loss, Abdominal pain ORPHA:767
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Abnormal pulmonary interstitial morphology, Co... ORPHA:99745
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Recurrent bronchitis, Gastrointestinal stroma tumor,... ORPHA:1572
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections OMIM:616873
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... ORPHA:330001
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Osteomyelitis, Skin rash, Pustule, Pulmonary fibrosis, Stomatitis OMIM:612852
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Chronic diarrhea, Recurrent... ORPHA:333
Triploidy
Hepatomegaly, Intestinal malrotation, Cryptorchidism, Abnormality of the pancreas, Abnormality of... ORPHA:3376
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Mahvash Disease
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Abdominal pain OMIM:619290
Currarino Syndrome
Anal stenosis, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Chronic cons... OMIM:176450
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Thrombocytopenia, Splenomegaly, Neutropenia, Colitis, Hemopha... ORPHA:540
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Abdominal pain, Intestinal perforation, Dyspnea, Diarrhea, Pancreatitis, Secretory dia... ORPHA:544482
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse ... ORPHA:424
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Pancreatitis, Respiratory insufficiency ORPHA:27
Zttk Syndrome
Absent gallbladder, Depressed nasal bridge, Abnormality of the dentition, Feeding difficulties in... OMIM:617140
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Small for gestational age, Short stature, Elevated circulating luteinizing horm... OMIM:618419
Dyskeratosis Congenita, Autosomal Dominant 3
Short stature, Growth delay, Pulmonary fibrosis, Decreased DLCO, Intrauterine growth retardation,... OMIM:613990
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections ORPHA:169079
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema OMIM:618307
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Increased mean corpuscular volume,... ORPHA:2169
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Multiple Osteochondromas
Intestinal obstruction, Short stature, Pneumothorax, Arthritis, Dysphagia, Hemothorax ORPHA:321
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... ORPHA:2137
Hypoplasminogenemia
Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the... ORPHA:722
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Th... OMIM:617303
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Pylori... ORPHA:379
Omenn Syndrome
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Thyroiditis, Erythroderma, Abnormal ... ORPHA:39041
Short-Rib Thoracic Dysplasia 12
Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respiratory insufficiency, Lobulated to... OMIM:269860
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short stature, Short hard palate, Anorexia ORPHA:1969
Osteogenesis Imperfecta
Neonatal respiratory distress, Intestinal obstruction, Small for gestational age, Short stature, ... ORPHA:666
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Failure to thrive, High palate, Pancreatitis OMIM:236200
Septopreoptic Holoprosencephaly
Precocious puberty, Perisylvian polymicrogyria, Anteriorly placed anus, Dysphagia, Anterior hypop... ORPHA:280195
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Severe short stature OMIM:619345
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Hepatic steatosis, Bifid uvula, ... OMIM:270400
Hypocalciuric Hypercalcemia, Familial, Type Iii
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer OMIM:600740
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... ORPHA:786
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Abdominal pain, Abnormality of the pancreas, Diarrh... ORPHA:54251
Rajab Interstitial Lung Disease With Brain Calcifications 2
Restrictive ventilatory defect, Short stature, Abnormal pulmonary interstitial morphology, Cough OMIM:619013
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat... ORPHA:209905
Pancreatic And Cerebellar Agenesis
Pancreatic hypoplasia, Convex nasal ridge, Anemia, Pancreatic aplasia OMIM:609069
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Skin rash, Short stature, Megaloblastic anemia, Thrombocytopenia, Recurrent infecti... OMIM:277380
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... OMIM:615486
Feingold Syndrome 1
Accessory spleen, Jejunal atresia, Anteverted nares, Asplenia, Esophageal atresia, Gastrointestin... OMIM:164280
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Abnormal tongue morpholo... ORPHA:653
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Hermansky-Pudlak Syndrome 10
Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstitial morphology... OMIM:617050
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Cryptorchidism, Splenomegaly, Macroglossia, Protein-losi... OMIM:618440
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Atelectasis, Feeding difficulties, Gastro... OMIM:613177
Dystonia 28
Short stature, Precocious puberty, Feeding difficulties, Dysphagia, Hypothyroidism ORPHA:589618
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Atelectasis, Respiratory insuffi... ORPHA:258
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Oromandibular Dystonia
Respiratory distress, Weight loss, Bruxism, Dysphagia ORPHA:93958
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Odynophagia, Fulminant hepatitis, Diarrhea, ... ORPHA:319213
Hurler Syndrome
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Splenomegaly, Enlarged t... OMIM:607014
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty ORPHA:217377
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Steatorrhea, High palate, Hyperechogenic ... OMIM:617941
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Pulmonary fibrosis, Neutropenia, Thromb... OMIM:613989
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... OMIM:201750
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... ORPHA:3226
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Intestinal malrotation, Hypoxemia, Meckel diverticulum, Abnormal g... ORPHA:2847
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Growth delay, Respiratory failure, Infection associated neutropenia, Neutropenia ORPHA:445038
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:618160
Atelosteogenesis Type I
Malrotation of colon, Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Cleft palate ORPHA:1190
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyponatremia, Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Hyperkale... OMIM:614736
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis OMIM:615190
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis, Cough OMIM:619468
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated... ORPHA:435660
Attrv30M Amyloidosis
Diarrhea, Constipation, Cardiomegaly, Weight loss ORPHA:85447
Pentalogy Of Cantrell
Absent gallbladder, Non-midline cleft lip, Orofacial cleft, Cleft palate, Polysplenia ORPHA:1335
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Congenital hypothyroidism, Stridor, Macrog... OMIM:218700
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Uterus didelphys, Gray... OMIM:618820
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Increased circulating cortisol level, Truncal obesity, Agitation, Primary hypercort... OMIM:610475
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Recurrent respiratory infections, Cleft palate, Cough ORPHA:2314
Platyspondylic Dysplasia, Torrance Type
Abdominal distention, Disproportionate short-limb short stature, Cleft palate ORPHA:85166
16P12.1P12.3 Triplication Syndrome
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal... ORPHA:485405
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... OMIM:301074
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Intestinal malrotation, Cleft soft palate, Abdominal obesity, Hypoplasia of the ov... OMIM:619321
Pituitary Gigantism
Premature pubarche, Elevated circulating growth hormone concentration, Increased circulating insu... ORPHA:99725
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pituitary Dermoid And Epidermoid Cysts
Nausea and vomiting, Enlarged pituitary gland, Neoplasm of the anterior pituitary, Meningitis, Ol... ORPHA:91351
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... ORPHA:95455
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahe... OMIM:619534
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Constipation, Intestinal pseudo-obstruction, Lacrimal duct stenosis ORPHA:73246
Huntington Disease-Like 2
Weight loss ORPHA:98934
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Hereditary Fructose Intolerance
Hepatomegaly, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Episodic hyperhidrosis, G... ORPHA:469
Leopard Syndrome 1
Hypospadias, Short stature, Delayed menarche, Cryptorchidism, Cleft palate, Hypoplasia of the ova... OMIM:151100
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-... ORPHA:99819
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Peptic ulcer, Abdominal pain, Splenomegaly, Diarrhea, Weight loss, Nausea ORPHA:98849
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:276152
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Lipase Deficiency, Combined
Pancreatitis OMIM:246650
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology, Abdominal pain ORPHA:293807
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis ORPHA:2547
Lymphoid Interstitial Pneumonia
Lymphocytic interstitial pneumonia OMIM:247610
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Decreased nasal nitric oxide, Recurrent infections, Bronchiectasis, Productive cough OMIM:615434
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Decreased response to growth horm... ORPHA:470
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Melas
Hypoparathyroidism, Intestinal pseudo-obstruction, Short stature, Gastrointestinal dysmotility, D... ORPHA:550
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... ORPHA:83628
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Cleft palate, Severe short stature, Disproportionate short-limb short stature, Protuberant abdomen OMIM:184250
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Absen... OMIM:250250
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Recurrent pharyngitis, Myocarditis, Leukocytosis, Splenome... ORPHA:829
Brucellosis
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Anorexia, Knee ... ORPHA:1304
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Diarrhea, Jaundice, Spleno... OMIM:235555
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Hepatic steatosis, Recurrent bacterial skin infections, Viral hepa... ORPHA:101330
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Cardiomegaly, Splenomegaly... ORPHA:465508
Irida Syndrome
Intrahepatic cholestasis, Abnormal intestine morphology ORPHA:209981
Mucopolysaccharidosis Type 3
Hepatomegaly, Ataxia, Malabsorption, Abnormality of the dentition, Splenomegaly, Adenoiditis, Rec... ORPHA:581
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Precocious puberty, Cleft palate, Growth delay, Gastroesophageal reflu... ORPHA:447980
H Syndrome
Diabetes mellitus, Psoriasiform dermatitis, Short stature, Hypertriglyceridemia, Malabsorption, R... ORPHA:168569
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Esophageal atresia, Biliary atresia OMIM:615272
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis... OMIM:613960
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Ab... ORPHA:729
Isolated Permanent Neonatal Diabetes Mellitus
Downturned corners of mouth, Pancreatic hypoplasia, Ataxia, Reduced pancreatic beta cells ORPHA:99885
Diaphanospondylodysostosis
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Abnormal liver lobulation, Protubera... OMIM:608022
Diamond-Blackfan Anemia 11
Short stature, Anemia of inadequate production, Neutropenia OMIM:614900
Tetrasomy 9P
Myositis, Dental crowding, Biliary atresia, Downturned corners of mouth, High palate, Short philt... ORPHA:3310
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Elevated hepatic transaminase, Failure to thrive, Abdominal distention, Mic... OMIM:617156
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Weight loss ORPHA:411593
Williams Syndrome
Cardiomegaly, Rectal prolapse, Dysmetria, Gastroesophageal reflux, Microdontia, Chronic otitis me... ORPHA:904
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Carious teeth, Wide nasal bridge, Protuberant abdomen, Secondary hyper... OMIM:277440
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections, Epistaxis OMIM:612840
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neutropenia, Micr... OMIM:617052
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... OMIM:616113
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Isaacs Syndrome
Hyperhidrosis, Weight loss ORPHA:84142
Fg Syndrome Type 1
Broad-based gait, Dental crowding, Choanal atresia, Abnormal large intestine morphology, Prominen... ORPHA:93932
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Ataxia, Hypothyroidism, Dysmetria, H... OMIM:616263
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Rhinitis ORPHA:507
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Thymoma
Myositis, Glomerulonephritis, Dyspnea, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Cou... ORPHA:99867
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus... OMIM:262190
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Ring Chromosome 13 Syndrome
Hypoplasia of the gallbladder, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, High ... ORPHA:96176
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Protuberant abdomen, Large for gestational age OMIM:618272
Cohen Syndrome
Neutropenia, Leukopenia, Short stature, Delayed puberty OMIM:216550
Addison Disease
Nausea and vomiting, Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular... ORPHA:85138
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Weight loss ORPHA:100024
Vacterl/Vater Association
Cryptorchidism, Abnormality of the pancreas, Anorectal anomaly, Abnormality of the gallbladder, T... ORPHA:887
Subaortic Stenosis-Short Stature Syndrome
Acne, Biliary tract abnormality, Obesity, Respiratory insufficiency, Microdontia ORPHA:3191
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Weight loss ORPHA:545
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the l... ORPHA:77293
Aceruloplasminemia
Refractory anemia, Ataxia, Akinesia, Abnormal pancreas morphology, Hypochromic microcytic anemia,... ORPHA:48818
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, Pulmonary fibrosis... OMIM:607625
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Intrauterine growth retardation, Recurrent lower respiratory tract infections, Short stature, Neu... OMIM:618005
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties ORPHA:221098
Netherton Syndrome
Recurrent respiratory infections, Short stature, Eczema, Skin rash, Malabsorption, Asthma, Erythr... ORPHA:634
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... ORPHA:2363
Spondyloepimetaphyseal Dysplasia, Shohat Type
Tracheal stenosis, Abdominal distention, Premature osteoarthritis, Hepatosplenomegaly ORPHA:93352
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Dyspnea, Dysphagia, Restrictive v... ORPHA:93672
Igg4-Related Pachymeningitis
Sinusitis, Dyspnea, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis ORPHA:449427
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Po... ORPHA:96182
Gm1 Gangliosidosis
Short stature, Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Macroglossia, Weight loss,... ORPHA:354
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Anorexia, Reye syndrome-l... ORPHA:20
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Pancreatiti... OMIM:222700
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Small for gestational age, Protuberant abdomen, Disproportionate short-trunk short stature OMIM:613330
Bardet-Biedl Syndrome 1
Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipidus, High, narrow palate, As... OMIM:209900
Wolcott-Rallison Syndrome
Short stature, Recurrent infections, Growth delay, Iron deficiency anemia, Lymphocytosis, Neutrop... ORPHA:1667
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Postnatal growth retardation, Intestinal bleeding, Pulmonary fibrosis, Intrauterin... OMIM:612199
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, ... OMIM:603467
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe... ORPHA:139402
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... OMIM:129900
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Jacobsen Syndrome
Anteverted nares, Intestinal malrotation, Eczema, Feeding difficulties in infancy, Cryptorchidism... ORPHA:2308
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Erythroderma, Poor appetite, Weight loss ORPHA:312
Spondyloepimetaphyseal Dysplasia, Shohat Type
Splenomegaly, Abdominal distention, Thin vermilion border, Hepatomegaly OMIM:602557
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Optic Pathway Glioma
Precocious puberty, Growth delay, Vomiting, Nausea ORPHA:2086
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abdominal pain, Bronchie... ORPHA:99921
Maple Syrup Urine Disease
Feeding difficulties in infancy, Vomiting, Pancreatitis OMIM:248600
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Parathyroid carcinoma, Recurrent pancreatitis, Pa... OMIM:145001
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Dyspnea, Abnor... ORPHA:284
Malakoplakia
Inflammatory abnormality of the skin, Neoplasm of the colon, Skin rash, Abnormality of the menstr... ORPHA:556
Achondrogenesis, Type Ii
Disproportionate short-trunk short stature, Cleft palate, Stillbirth, Disproportionate short-limb... OMIM:200610
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Depressed nasal bridge, Carious teeth, Wide nasal bridge, Thick vermilion border, Widely spaced t... OMIM:617102
Steinfeld Syndrome
Absent gallbladder, Bifid uvula, Aplasia of the nose, Median cleft lip and palate OMIM:184705
Proteasome-Associated Autoinflammatory Syndrome 2
Neutrophilic infiltration of the skin, Recurrent bacterial infections, Skin rash, Recurrent viral... OMIM:618048
Limb-Mammary Syndrome
Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Cleft hard palate, Pri... ORPHA:69085
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Darier-White Disease
Enlargement of parotid gland OMIM:124200
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:2348
Immunodeficiency 43
Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura... OMIM:241600
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Vici Syndrome
Recurrent respiratory infections, Recurrent viral infections, Postnatal growth retardation, Chron... OMIM:242840
17Q12 Microdeletion Syndrome
Elevated hepatic transaminase, Cryptorchidism, Feeding difficulties, Pancreatic aplasia ORPHA:261265
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent viral infections, Lymphadenitis, Recurrent bacterial infections, Recurrent f... ORPHA:331206
Hypophosphatasia
Emphysema, Short stature, Respiratory insufficiency ORPHA:436
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hepatic steatosis, Pancreatitis ORPHA:79083
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to gr... OMIM:604292
Schwartz-Jampel Syndrome
Apnea, Short stature, Cachexia, Feeding difficulties in infancy, Respiratory insufficiency, Cleft... ORPHA:800
Fryns Syndrome
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Tented upper lip vermil... OMIM:229850
Cerebrotendinous Xanthomatosis
Ataxia, Chronic diarrhea, Gait disturbance, Prolonged neonatal jaundice, Cholelithiasis, Prematur... ORPHA:909
Proteasome-Associated Autoinflammatory Syndrome 1
Prominent nose, Cardiomegaly, Microcytic anemia, Increased circulating IgG level, Conjunctivitis,... OMIM:256040
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis OMIM:608600
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Dyskeratosis Congenita, Autosomal Recessive 1
Esophageal stricture, Oral leukoplakia, Pulmonary fibrosis OMIM:224230
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure ORPHA:664
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... OMIM:216360
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Poor suck, Female infertility OMIM:619518
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Asthma, Recurrent pneumonia, Diarrhea,... OMIM:309900
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Hematemesis, Splenomegaly, Esophageal varix,... OMIM:263200
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Oral leukoplakia, Pulmonary fibrosis OMIM:127550
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the liver, Constipation ORPHA:2126
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... OMIM:208085
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Recurrent inf... ORPHA:79243
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Growth delay, Failure to thrive, Secondary hyperparathyroidism, Protuberant abdomen OMIM:264700
Spondyloepimetaphyseal Dysplasia, Krakow Type
Eczema, Allergic rhinitis, Feeding difficulties, Decreased circulating total IgM, High palate, Co... OMIM:618162
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting, Congenital pyloric atresia ORPHA:158684
Mast Cell Sarcoma
Splenomegaly, Hepatomegaly, Weight loss ORPHA:66661
Pendred Syndrome
Hyperparathyroidism, Ataxia, Tracheal stenosis, Hypothyroidism, Goiter ORPHA:705
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Saul-Wilson Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neutropenia OMIM:618150
Kleefstra Syndrome Due To A Point Mutation
Short stature, Large for gestational age, Precocious puberty, Recurrent infections, Gastroesophag... ORPHA:261652
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Biliary atresia ORPHA:565899
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Postnatal growth retardation, Cryptorchidism, Neonatal asphyxia, Cleft palate, Rec... ORPHA:2728
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Elevated circulating creatinine concentration, Synovitis, Arthriti... ORPHA:567544
Precocious Puberty, Central, 1
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... OMIM:176400
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Increased circulating free T4 concentration, Weight loss, Increased circulating ... OMIM:613239
Alpha-Mannosidosis, Adult Form
Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Recurrent gastroenteritis ORPHA:309288
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Pericarditis, Maculopap... ORPHA:99826
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Small for gestational a... ORPHA:26793
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Anhidrosis, Severe short stature, Cachexia, Feeding ... ORPHA:191
Giant Cell Arteritis
Pericarditis, Epistaxis, Anorexia, Abdominal pain, Weight loss, Hyperhidrosis, Arthritis, Gastroi... ORPHA:397
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Feeding difficulties in infancy, Weight loss, ... ORPHA:3208
Campomelia, Cumming Type
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... ORPHA:1318
Distal Deletion 12Q
Late onset atopic dermatitis, Median cleft lip, Unilateral cryptorchidism, Anteverted nares, High... ORPHA:96149
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... ORPHA:1359
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Bowel incontinence, Feeding difficulties in infancy, Respiratory... ORPHA:365
Schneckenbecken Dysplasia
Cleft palate, Stillbirth, Disproportionate short-limb short stature, Protuberant abdomen OMIM:269250
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... ORPHA:556030
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Myocarditis, Abnormal pulmonary interstitial morphology, Dysphagia ORPHA:206569
Chops Syndrome
Short stature, Gastroparesis, High, narrow palate, Cryptorchidism, Splenomegaly, Obesity, Anomalo... OMIM:616368
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Precocious puberty, Bifid uvula, Cleft palate, Decreased body weight OMIM:300958
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Wolfram Syndrome
Central apnea, Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Abnor... ORPHA:3463
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Postnatal growth retardation, Secondary hyperparathyroidism, Protuberant abdomen, ... ORPHA:289157
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Pierre-Robin sequence, Cleft palate, An... OMIM:217980
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain ORPHA:405
Hereditary Chronic Pancreatitis
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Abdominal pain ORPHA:676
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Splenomegaly, Di... OMIM:615846
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Short stature, Neutropenia OMIM:609053
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Postnatal gro... OMIM:210900
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorption, Dyspnea, Weight ... ORPHA:79430
Erdheim-Chester Disease
Osteomyelitis, Skin rash, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis... ORPHA:35687
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Severe short stature, Short stature, Postnatal growth retardation, Splenomegaly, Ma... OMIM:253220
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Oral ulcer, Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Ataxia, Portal hypertension, Abdomin... OMIM:615688
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... OMIM:115470
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Precocious puberty, Feeding di... ORPHA:819
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Diarrhea, Tachypnea, Respiratory insufficiency, Fe... OMIM:618278
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Microangiopathic h... ORPHA:2330
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... ORPHA:556037
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Pituitary adenoma, Primary hyperparat... ORPHA:97289
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Short stature, Bilateral cryptorchidism, Recurrent pneumonia, Chronic constipation, High palate, ... OMIM:300472
Pancreatic insufficiency, combined exocrine
Anasarca, Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency OMIM:260450
19P13.12 Microdeletion Syndrome
Hepatic steatosis, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia, Obesity, Clef... ORPHA:254346
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Ataxia-Telangiectasia
Sinusitis, Female hypogonadism, Diabetes mellitus, Short stature, Elevated circulating alpha-feto... OMIM:208900
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... ORPHA:91347
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Failure to thrive, Severe short stature, Cachexia, Ascites OMIM:610965
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Congenital Respiratory-Biliary Fistula
Tracheal stenosis, Abnormality of the liver ORPHA:2040
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepato... OMIM:232240
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Diarrhea, Tachypnea, Weight loss, Vomiting, Agitation, Cough, Oral aversion ORPHA:134
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Downturned corners of mouth, Gastroesophageal reflux, Short philtrum, C... OMIM:616268
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia ORPHA:79264
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Fibrochondrogenesis 1
Anteverted nares, Depressed nasal bridge, Narrow mouth, Cleft palate, Stillbirth, Protuberant abd... OMIM:228520
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Depressed nasal bridge, Feeding difficulties in infancy, Gastr... ORPHA:500150
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Anteverted nares, Choanal atresia, Cryptorchidism, Cleft lip, Bulbous nose, Furrowed tongue, Feed... OMIM:616975
Pauci-Immune Glomerulonephritis
Abnormality of the gastrointestinal tract, Glomerulonephritis, Abdominal pain, Dyspnea, Crescenti... ORPHA:93126
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Weight loss, Goiter OMIM:188580
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ataxia, Inability to walk, Cleft palate, Feeding difficulties, Downturned corners of mouth, Gait ... ORPHA:488642
Meckel Syndrome 14
Abdominal distention, Anteverted nares, Hepatic fibrosis, Protuberant abdomen OMIM:619879
Tarp Syndrome
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neon... OMIM:311900
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Malabsorption, Abn... ORPHA:175
Genitopalatocardiac Syndrome
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder, Cleft palate, Intr... ORPHA:2075
Cranioectodermal Dysplasia 1
Hepatomegaly, Anteverted nares, Malformation of the hepatic ductal plate, High, narrow palate, Wi... OMIM:218330
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Splenomegaly, Lymphadenitis,... OMIM:615895
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Splenomegaly, Diarrhea,... OMIM:260920
Duodenal Atresia
Duodenal atresia OMIM:223400
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... ORPHA:728
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Exaggerated cupid's bow, Cyst of the ductus choledochus, Feeding difficulties, Chronic constipati... OMIM:619480
Muir-Torre Syndrome
Colonic diverticula, Ovarian neoplasm, Adenoma sebaceum, Colon cancer, Benign gastrointestinal tr... OMIM:158320
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Cleft palate, Hyp... OMIM:214110
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Small intestinal dysmotility, Feeding difficulties, Hypopnea, Restrictive... OMIM:619482
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of
Enlargement of parotid gland OMIM:600343
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palat... ORPHA:95699
Stickler Syndrome
Slender build, Short stature, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Cleft pa... ORPHA:828
Non-Acquired Panhypopituitarism
Pituitary dwarfism, Ectopic posterior pituitary, Hypogonadotropic hypogonadism, Short stature, De... ORPHA:90695
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Dyspnea, Neutropenia, Microcytic anemia OMIM:251900
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Splenomegaly, Recurrent pne... OMIM:252500
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Supernumerary nipple, Cryptorchidism, Pyloric s... OMIM:235730
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Cryptorchidism, Orofacial cleft, Narrow mouth, Tracheal st... ORPHA:3301
Schinzel-Giedion Syndrome
Respiratory distress, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Hypospad... ORPHA:798
Frontometaphyseal Dysplasia 2
Depressed nasal bridge, Broad nasal tip, Feeding difficulties in infancy, Cryptorchidism, Pyloric... OMIM:617137
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Peters Plus Syndrome
Intestinal fistula, Hypospadias, Short stature, Rhizomelia, Postnatal growth retardation, Cryptor... ORPHA:709
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Neutropenia, Recurrent infections OMIM:615471
1P36 Deletion Syndrome
Depressed nasal bridge, Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Abnorm... ORPHA:1606
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Simplified gyral pattern OMIM:619877
Treacher Collins Syndrome 1
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... OMIM:154500
Craniopharyngioma
Nausea and vomiting, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Proportionate short... ORPHA:54595
8P23.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, High palate, Attention deficit... ORPHA:251071
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Fibrochondrogenesis 2
Short nose, Anteverted nares, Protuberant abdomen OMIM:614524
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Psoriasiform dermatitis, Diabetes mellitus, Septate vagina, Uterus didelphys,... ORPHA:2237
Oeis Complex
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... OMIM:258040
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Rothmund-Thomson Syndrome, Type 2
Delayed eruption of teeth, Depressed nasal bridge, Cryptorchidism, Supernumerary tooth, Hypoplasi... OMIM:268400
Viss Syndrome
Chronic gastritis, High, narrow palate, Gastroesophageal reflux, High palate, Broad uvula, Emphys... OMIM:619472
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Gastrointestinal stroma tumor, Myocarditis, Abnor... ORPHA:221
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Precocious puberty, Cryptorchidism, Feeding difficulties, Labial hypoplasia, Micropenis OMIM:620073
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Disproportionate short-limb short stature, Protuberant abdomen, Ne... OMIM:187600
Huntington Disease-Like 2
Weight loss OMIM:606438
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Tracheal stenosis, Congenital hypothyroidism, Decreased response to growth hormone stimulation te... OMIM:601427
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Thrombocytopeni... OMIM:227646
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... ORPHA:221139
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia ORPHA:314655
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Melena, Kerat... OMIM:158310
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Depressed nasal bridge, Microvesicular hepatic steatosis, Splenom... OMIM:619418
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Increased mea... ORPHA:33364
Congenital Tracheal Stenosis
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... ORPHA:141127
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Episodic abdominal pain, Hepatosplenomegaly, Vomiting, Nausea OMIM:238600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty ORPHA:457260
Hurler-Scheie Syndrome
Hepatomegaly, Depressed nasal bridge, Splenomegaly, Thick vermilion border, Tracheal stenosis OMIM:607015
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short lingual frenulum, Depressed nasal bridge, Wide nasal bridge, Feeding difficulties, Widely s... OMIM:619479
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Rectal prolapse, Narrow palate, Pleural effusion, Protein-losing enteropathy, Int... OMIM:235510
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... ORPHA:100026
Chand Syndrome
Atelectasis, Bifid tongue, Imperforate hymen, Cleft palate ORPHA:1401
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Short stature, Pneumonia, Skin rash, Autoimmune thromb... ORPHA:1855
Gaucher Disease Type 1
Hepatomegaly, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis, Gingival ble... ORPHA:77259
Miller-Dieker Lissencephaly Syndrome
Pachygyria, Cryptorchidism, Cleft palate, Gray matter heterotopia, Lissencephaly, Intrauterine gr... OMIM:247200
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Thrombocytopenia, Reticulocytopenia, Neutropenia, Intrauterine growt... OMIM:227645
Bainbridge-Ropers Syndrome
Intestinal malrotation, Supernumerary nipple, Precocious puberty, Cryptorchidism, Recurrent infec... OMIM:615485
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, ... ORPHA:96191
Phocomelia, Schinzel Type
Hypoplasia of penis, Cryptorchidism, High, narrow palate, Disproportionate short stature, Tracheo... ORPHA:2879
Leigh Syndrome
Eczema, Severe viral infection, Growth delay, Respiratory failure, Neutropenia, Intrauterine grow... ORPHA:506
Non-Functioning Paraganglioma
Episodic hyperhidrosis, Weight loss, Nausea, Episodic abdominal pain ORPHA:94080
Rabson-Mendenhall Syndrome
Increased pineal volume, Enlarged ovaries, Short stature, Precocious puberty, Insulin-resistant d... ORPHA:769
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption, Malnutrition, Diarrhea, Decreased body weight ORPHA:96180
Cornelia De Lange Syndrome 1
Hypospadias, Pneumonia, Short stature, Hiatus hernia, Malrotation of colon, High, narrow palate, ... OMIM:122470
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Shawl scrotum, Cryptorchidism, Feedi... ORPHA:2745
Lethal Kniest-Like Dysplasia
Cleft palate, Severe short-limb dwarfism, Protuberant abdomen, Mesomelic/rhizomelic limb shortening ORPHA:2347
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:614887
Plasminogen Deficiency, Type I
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis OMIM:217090
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Pyloric stenosis, Thrombocytopenia, Ann... OMIM:147791
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Periodontitis, Hepatomegaly, Abnorm... ORPHA:1775
Mucolipidosis Type Ii
Respiratory failure requiring assisted ventilation, Short stature, Postnatal growth retardation, ... ORPHA:576
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Abnormality of the gastrointestinal tract, Membrano... ORPHA:91139
Orofaciodigital Syndrome Ix
Short stature, High palate, Recurrent aspiration pneumonia, Cleft palate OMIM:258865
Geleophysic Dysplasia 3
Hepatomegaly, Anteverted nares, Pneumonia, Depressed nasal bridge, Bulbous nose, Wide nasal bridg... OMIM:617809
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Eczema OMIM:617241
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Failure to thrive ORPHA:293181
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Achondrogenesis, Type Ia
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Protruding tongue, Stillbirth... OMIM:200600
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Cleft upper lip, Cryptorchidism, Esophageal atresia, Abdominal... ORPHA:93271
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Intestinal pseudo-obstruction, Gastroparesis ORPHA:70595
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Delayed puberty,... ORPHA:1328
Cholera
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Dehydrati... ORPHA:173
Hereditary Late-Onset Parkinson Disease
Impulsivity, Weight loss, Chronic constipation, Agitation, Dysphagia ORPHA:411602
Perry Syndrome
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Inappropriate b... OMIM:168605
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Gastroparesis, Recurrent infections due to aspira... ORPHA:70
Beckwith-Wiedemann Syndrome
Hepatomegaly, Polycythemia, Cardiomegaly, Feeding difficulties in infancy, Cryptorchidism, Spleno... ORPHA:116
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,... OMIM:263520
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:99228
Monosomy X
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:99226
Turner Syndrome
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, High pal... ORPHA:881
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Short stature, Cachexia ORPHA:220295
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Malabsorption, Feeding difficulties in infancy, Cryptorchidism,... ORPHA:534
Atelosteogenesis, Type I
Depressed nasal bridge, Cryptorchidism, Cleft palate, Stillbirth, Protuberant abdomen, Neonatal d... OMIM:108720
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Abdominal pain OMIM:608189
Hydrolethalus
Tracheal atresia, Cryptorchidism, Submucous cleft hard palate, Gingival cleft, Cleft palate, Abno... ORPHA:2189
Slc35A2-Cdg
Failure to thrive in infancy, Short stature, Increased circulating thyroglobulin level, Precociou... ORPHA:356961
Hypomandibular Faciocranial Dysostosis
Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Choanal stenosis, Narrow mouth,... ORPHA:1790
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Intellectual Developmental Disorder, Autosomal Dominant 54
Short stature, Eczema, Apnea, Growth delay, Neutropenia, Hyperventilation OMIM:617799
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Asplenia, Esophageal atresia, Cleft lip, Pulmonary lymphangiectasia, Trac... OMIM:265380
Marfan Syndrome
Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, High, narrow palate, Cleft palate, Atte... ORPHA:558
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Hypercapnia, Respiratory insufficiency due to muscle weakness, Nasogastric tube fe... ORPHA:2020
Exstrophy-Epispadias Complex
Bifid scrotum, Abnormality of the gastrointestinal tract, Anal stenosis, Bifid uterus, Epispadias... ORPHA:322
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... ORPHA:330021
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... OMIM:174800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Respiratory insufficiency, Weight loss, Dysphagia OMIM:607459
Fucosidosis
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder ORPHA:349
Neu-Laxova Syndrome 2
Cleft palate, High palate, Protuberant abdomen, Intrauterine growth retardation OMIM:616038
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Anal atresia OMIM:271520
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Ollier Disease
Precocious puberty ORPHA:296
Thymic Carcinoma
Hyperhidrosis, Dyspnea, Weight loss, Cough ORPHA:99868
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retarda... OMIM:261540
Curry-Jones Syndrome
Chronic constipation, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation OMIM:601707
Tarp Syndrome
Failure to thrive, Apnea, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morpholog... ORPHA:2886
Focal Myositis
Myositis, Weight loss ORPHA:48918
Gaucher Disease, Type I
Dyspnea, Epistaxis, Abnormal pulmonary interstitial morphology, Pulmonary arterial hypertension OMIM:230800
Basilicata-Akhtar Syndrome
Precocious puberty, Chronic constipation, Gastroesophageal reflux, Feeding difficulties OMIM:301032
Glycerol Kinase Deficiency
Small for gestational age, Short stature, Chronic pancreatitis, Cryptorchidism, Growth delay, Adr... OMIM:307030
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Median cleft lip, Aplasia of the nose, Orofacial cleft ORPHA:3186
Degcags Syndrome
Oral-pharyngeal dysphagia, High palate, Gastroesophageal reflux, Intrauterine growth retardation,... OMIM:619488
Woolly Hair Nevus
Precocious puberty ORPHA:79414
Chromosome Xp11.23-P11.22 Duplication Syndrome
Precocious puberty OMIM:300801
Dyggve-Melchior-Clausen Disease
Hyperactivity, Severe short stature, Rhizomelia, Respiratory insufficiency due to muscle weakness... ORPHA:239
X-Linked Dystonia-Parkinsonism
Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue ORPHA:53351
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Rhizomelia, Stillbirth, Protuberant abdomen, Neonatal short-limb short stature OMIM:151210
Orofaciodigital Syndrome Type 1
Lobulated tongue, High palate, Chronic otitis media, Ataxia, Abnormal dental enamel morphology, H... ORPHA:2750
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss, Anorexia, Exertional dyspnea ORPHA:514
Radio-Tartaglia Syndrome
Precocious puberty, High, narrow palate, Obesity, Gray matter heterotopia, High palate, Gastroeso... OMIM:619312
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Cholangitis, Hypersplenism, Hepatitis, Thyroiditis, Recurrent infections, Hepatospl... ORPHA:228426
Myhre Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, External genital hypoplasia, Precoc... ORPHA:2588
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus ORPHA:2736
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Anhidrosis, Conical tooth, Splenomegaly, Chronic diarrhea, Hypohidrosis, Aplasia of... OMIM:612132
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc... ORPHA:99829
Perry Syndrome
Central hypoventilation, Weight loss ORPHA:178509
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence, Choanal stenosis, Tracheal st... OMIM:620183
Jung Syndrome
Tracheal stenosis, Depressed nasal bridge, Hypothyroidism, Wide nasal bridge ORPHA:2321
Pediatric-Onset Graves Disease
Episcleritis, Keratitis, Neonatal asphyxia, Splenomegaly, Neutropenia in presence of anti-neutrop... ORPHA:525731
Smith-Lemli-Opitz Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Advanced eruption of teeth, Abnormal de... ORPHA:818
Nijmegen Breakage Syndrome
Anal atresia, Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Sho... OMIM:251260
Eosinophilic Fasciitis
Myositis, Fasciitis, Arthritis, Weight loss ORPHA:3165
Greenberg Dysplasia
Hepatomegaly, Depressed nasal bridge, Depressed nasal ridge, Hepatic calcification, Hepatosplenom... OMIM:215140
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... ORPHA:124
Mosaic Trisomy 9
Intestinal malrotation, Asplenia, Cryptorchidism, Cleft palate, High palate, Abnormal liver lobul... ORPHA:99776
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Relapsing Fever
Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Leukopenia, Cough, Anemia ORPHA:91547
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Pancreatic cysts, Crypto... ORPHA:564
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Growth delay, Pulmonary arterial ... ORPHA:79282
Musculocontractural Ehlers-Danlos Syndrome
Recurrent skin infections, Cryptorchidism, Abnormal mesentery morphology, Pneumothorax, Malrotati... ORPHA:2953
Gaucher Disease
Osteomyelitis, Short stature, Osteoarthritis, Abnormal pulmonary interstitial morphology, Dysphag... ORPHA:355
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... ORPHA:454831
Dyskeratosis Congenita, X-Linked
Short stature, Esophageal stricture, Restrictive ventilatory defect, Conjunctivitis, Pulmonary fi... OMIM:305000
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Anal atresia, Bifid uterus OMIM:617466
Overlap Myositis
Abnormal pulmonary interstitial morphology, Arthritis, Rheumatoid arthritis, Dysphagia, Pulmonary... ORPHA:206572
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Bilateral cryptorchidism, Asthma, Obesity, Pancreatitis OMIM:619471
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Intermittent hyperventilation, Precocious puberty, Obesity, Abnormality of neuronal... ORPHA:163681
Cohen Syndrome
Neutropenia, Intrauterine growth retardation, Short stature, Delayed puberty ORPHA:193
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... ORPHA:49041
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... ORPHA:163956
Brachytelephalangic Chondrodysplasia Punctata
Broad nasal tip, Depressed nasal ridge, Feeding difficulties, Nasal congestion, Short columella, ... ORPHA:79345
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty OMIM:619356
Adrenocortical Carcinoma
Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Hyperhidrosis, Wei... ORPHA:1501
Colchicine Poisoning
Hyponatremia, Myocarditis, Diarrhea, Abnormal blood ion concentration, Dehydration, Hypophosphate... ORPHA:31824
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Adrenal pheochromocytoma, Epi... ORPHA:276621
Coffin-Siris Syndrome
Hypospadias, Postnatal growth retardation, Cryptorchidism, Recurrent upper respiratory tract infe... ORPHA:1465
Meier-Gorlin Syndrome 4
Birth length less than 3rd percentile, Intrauterine growth retardation, Emphysema, Short stature OMIM:613804
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatomegaly, Postnatal growth retardation, Gastroesophageal reflux, Hepatic hemangioma, Dysphagi... ORPHA:73230
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Chylothorax, Pleural effusion, Ascites OMIM:617300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:280365
Kaposiform Lymphangiomatosis
Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lym... ORPHA:464329
9P13 Microdeletion Syndrome
Short stature, External genital hypoplasia, Precocious puberty, High palate, Recurrent otitis media ORPHA:324313
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Re... OMIM:606721
Chromosome 17Q12 Deletion Syndrome
Recurrent urinary tract infections, Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the v... OMIM:614527
Nephronophthisis 13
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:614377
Acute Adrenal Insufficiency
Nausea and vomiting, Decreased circulating cortisol level, Salt craving, Anorexia, Abdominal pain... ORPHA:95409
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombo... ORPHA:293978
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Pyloric stenosis, Pneumothorax, Recurrent pneumonia, Respirat... ORPHA:90349
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Pancreatitis OMIM:145980
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Abdominal pain, Diarrhea, Weight loss, Failure to thrive OMIM:256700
Abetalipoproteinemia
Hepatomegaly, Chronic diarrhea, Respiratory failure, Keratoconjunctivitis sicca, Vomiting, Hepati... ORPHA:14
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splen... OMIM:613471
Campomelia, Cumming Type
Pancreatic cysts, Polycystic liver disease, Polysplenia OMIM:211890
Rothmund-Thomson Syndrome
Skin rash, Aplastic anemia, Short stature, Neutropenia, Leukemia, Malar rash, Anemia ORPHA:2909
3-Methylglutaconic Aciduria, Type Viii
Apnea, Growth delay, Hypopnea, Respiratory failure, Neutropenia, Respiratory arrest OMIM:617248
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Polycystic ovaries, Panniculitis, Cirrhosis, Hepatic steatosis ORPHA:79086
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Celiac disease, Iridocyclitis, Xerostomia, Biliary cirrhosis, Anterior pituit... ORPHA:227990
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity, Gout, Hypothyroidism ORPHA:412
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Growth delay, ... OMIM:614083
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Small for gestational age, Nasogastric tube feeding in... ORPHA:1708
Carpenter Syndrome 1
Short stature, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, High pal... OMIM:201000
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Atelosteogenesis Type Ii
Bilateral cleft palate, Thin upper lip vermilion, Cleft palate, Protuberant abdomen, Long philtru... ORPHA:56304
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Ele... ORPHA:247691
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Dysphagia ORPHA:52368
Senior-Loken Syndrome 8
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Marshall-Smith Syndrome
Apnea, Short stature, Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism, Recurrent upper... OMIM:602535
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Cyst of the ductus ... ORPHA:480880
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Ambiguous genitalia, Unilateral cryptorchidism, Intestinal malro... OMIM:618280
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Primary adrenal insufficiency, Weight loss, Res... ORPHA:2905
Khan-Khan-Katsanis Syndrome
Short stature, Neutropenia, Intrauterine growth retardation, Lymphopenia, Anemia OMIM:618460
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Wide nose, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cr... ORPHA:96334
Seckel Syndrome 10
Acute pancreatitis, Severe short stature, Elevated circulating aspartate aminotransferase concent... OMIM:617253
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... OMIM:130050
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Rhizomelia, Disproportionate short-limb short stature, Neutropenia OMIM:271510
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Neonatal death, Aspiration pneumonia OMIM:619167
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Short s... ORPHA:99843
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ... ORPHA:284339
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Pancreatic fibrosis OMIM:615503
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagia, Splenomegal... OMIM:219800
Loeffler Endocarditis
Pericarditis, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy ORPHA:75566
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Apnea, Hypospadias, Supernumerary nipple, Short stature, Rhizom... ORPHA:397715
Orofaciodigital Syndrome I
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Carious teeth, Supernum... OMIM:311200
Plague
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... ORPHA:707
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Keutel Syndrome
Wide nose, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Recurrent otit... ORPHA:85202
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in... OMIM:149730
Multiple Myeloma
Splenomegaly, Pleural effusion, Functional abnormality of the gastrointestinal tract, Weight loss ORPHA:29073
Combined Oxidative Phosphorylation Deficiency 25
Chronic constipation, Short stature, Aspiration pneumonia, Feeding difficulties OMIM:616430
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, W... ORPHA:85408
Blomstrand Lethal Chondrodysplasia
Natal tooth, Anteverted nares, Depressed nasal bridge, Protruding tongue, Protuberant abdomen, Lo... ORPHA:50945
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Intestinal mal... ORPHA:353281
Hennekam-Beemer Syndrome
Respiratory insufficiency, High palate, Pneumonia, Short stature ORPHA:2135
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Short stature, Aplasia/Hypoplasia of the uvula, Crypt... ORPHA:84
Infantile Nephropathic Cystinosis
Abnormality of thyroid physiology, Abnormal blood ion concentration, Dehydration, Hypokalemia, Co... ORPHA:411629
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum OMIM:300291
Opsismodysplasia
Depressed nasal bridge, Anteverted nares, Protuberant abdomen, Long philtrum, Short nose OMIM:258480
Kabuki Syndrome 1
Anal stenosis, Short stature, Intestinal malrotation, Premature thelarche, Malabsorption, Postnat... OMIM:147920
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Precocious puberty, Disproportionate short stature, Abnormality... ORPHA:2637
Intussusception
Intussusception OMIM:147710
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Spondyloocular Syndrome
Unilateral cryptorchidism, Duodenal ulcer, Short stature, Decreased body weight OMIM:605822
Wolf-Hirschhorn Syndrome
Accessory spleen, Small for gestational age, Hypospadias, Short stature, Precocious puberty, Cryp... OMIM:194190
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Thrombocytosis, Congenital hypoplastic anemia, Reticulocytopeni... OMIM:105650
Alexander Disease
Nausea and vomiting, Diabetes mellitus, Bowel incontinence, Precocious puberty, Hypothyroidism, R... ORPHA:58
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Precocious puberty, Hepatosplenomegaly, Aspiration pneumonia... ORPHA:845
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Short stature, Growth delay, Neutropenia, Leukemia, Anemia ORPHA:221008
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Fontaine Progeroid Syndrome
Small scrotum, High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Neonatal dea... OMIM:612289
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Short stature, Decreased serum iron, Breathing dysregulation, Abnormality... ORPHA:438213
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hepatosplenomegaly ORPHA:86884
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Depressed nasal bridge, Cholangitis, Accessory oral frenulum, Ataxia, Pancreatic cy... OMIM:266920
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting,... ORPHA:340
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Pneumothorax, C... OMIM:601776
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Episodic hyperhidrosis, Weight loss, Adrenal pheochromocytoma, Epi... ORPHA:29072
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Lymphocytic interstitial pneumonia, Bronchitis, Glomeruloneph... ORPHA:289390
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Herpes Simplex Virus Encephalitis
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia ORPHA:1930
Choreoacanthocytosis
Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Ele... ORPHA:2388
Aquagenic Palmoplantar Keratoderma
Palmoplantar hyperhidrosis, Atopic dermatitis, Edema ORPHA:498359
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Intestinal malrotation, Hiatus hernia, Precocious puberty, Cryptorchidism, Encopresis, Feeding di... OMIM:616682
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Feeding difficulties, Anterior predominant thick cortex pachygyria, ... ORPHA:95232
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cells OMIM:617099
Thrombocytopenia-Absent Radius Syndrome
Cleft palate, Aplasia of the uterus ORPHA:3320
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Short stature, Growth delay, Neutropenia, Leukemia, Anemia ORPHA:221016
Arteriosclerosis, Severe Juvenile
Gastric ulcer, Short stature, Delayed puberty OMIM:208060
Short Syndrome
Severe short stature, Poor appetite, Weight loss ORPHA:3163
Tropical Endomyocardial Fibrosis
Orthopnea, Hepatomegaly, Cachexia, Cardiomegaly, Dyspnea, Splenomegaly, Malnutrition, Pulmonary v... ORPHA:75565
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Polycy... OMIM:608594
Aicardi Syndrome
Intestinal polyposis, Hiatus hernia, Malabsorption, Precocious puberty, Feeding difficulties in i... ORPHA:50
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Supernumerary nip... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Supernumerary nip... ORPHA:352665
Knobloch Syndrome 2
Pyloric stenosis, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:618458
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:95626
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Hi... ORPHA:353277
Mowat-Wilson Syndrome
Dental crowding, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Widely spac... ORPHA:2152
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Malnutrition, Dysphagia, Impotence, Constipation, Erectile dy... ORPHA:99027
Weill-Marchesani Syndrome 2
Short stature, Proportionate short stature, Narrow palate, High palate, Protuberant abdomen OMIM:608328
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Tracheal atresia OMIM:601612
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Hyperhidrosis, Weight loss, Constipation, Posterior uveitis ORPHA:52417
Kabuki Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Obesity, Cle... ORPHA:2322
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... ORPHA:64
Semilobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... ORPHA:220386
Alobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... ORPHA:93926
Lobar Holoprosencephaly
Decreased response to growth hormone stimulation test, Panhypopituitarism, Gastroesophageal reflu... ORPHA:93924
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus ORPHA:1521
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Hepatomegaly, Cardiomegaly, Posteriorly placed anus, Asplenia, Biliary atre... OMIM:306955
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary artery stenosis OMIM:123700
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Hepatoblastoma,... OMIM:130650
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Peripheral pulmonary artery stenosis, Anal stenosis, Elevated circulating alpha-fetoprotein conce... ORPHA:280633
Scorpion Envenomation
Restlessness, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:466677
Aicardi Syndrome
Hiatus hernia, Precocious puberty, Postnatal growth retardation, Recurrent pneumonia, Cleft palat... OMIM:304050
Osteosarcoma
Weight loss ORPHA:668
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Ne... ORPHA:99889
Geleophysic Dysplasia 1
Hepatomegaly, Anteverted nares, Wide mouth, Long philtrum, Tracheal stenosis, Short nose, Smooth ... OMIM:231050
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Polyphagia, Polycy... OMIM:269700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... ORPHA:369837
Phakomatosis Pigmentokeratotica
Precocious puberty, Cryptorchidism, Pheochromocytoma ORPHA:2874
Norrie Disease
Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Dela... ORPHA:649
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Abnormal l... ORPHA:672
Autoimmune Pulmonary Alveolar Proteinosis
Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Fraser Syndrome
Anal stenosis, Cleft ala nasi, Dental crowding, Depressed nasal bridge, Cleft upper lip, Underdev... ORPHA:2052
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Abnormal cortical gyration, Bifid uterus, Abnormal lung lobation, ... OMIM:236680
Bifid Nose With Or Without Anorectal And Renal Anomalies
Precocious puberty, Rectovaginal fistula, Anteriorly placed anus OMIM:608980
Hypermobile Ehlers-Danlos Syndrome
Nausea and vomiting, Apnea, Abnormality of the menstrual cycle, Malabsorption, Gastrointestinal d... ORPHA:285
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Duodenal ulcer, Intestinal malrotation, Hypospadias, Short stat... OMIM:135900
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Short stature, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypothyroidism OMIM:613673
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Growth delay, Short stature OMIM:163200
Gaucher Disease Type 3
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology, Growth delay, Delay... ORPHA:77261
Mucopolysaccharidosis, Type Vi
Short stature, Pneumonia, Recurrent upper respiratory tract infections, Disproportionate short-tr... OMIM:253200
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom... ORPHA:744
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Pancreatitis ORPHA:565612
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Townes-Brocks Syndrome 1
Bifid scrotum, Anal stenosis, Rectoperineal fistula, Small for gestational age, Hypospadias, Bifi... OMIM:107480
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Polycystic ovaries OMIM:151660
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Asthma, Growth delay, Periodontitis, Type I diab... OMIM:619269
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Recurrent respiratory infections, Short stature, Cleft soft palate, Precocious puberty, High, nar... OMIM:619950
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Small for gestational age, ... ORPHA:363958
Aspartylglucosaminuria
Recurrent respiratory infections, Short stature, Acne, Vacuolated lymphocytes, Neutropenia OMIM:208400
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Primary Fanconi Renotubular Syndrome
Growth delay, Pulmonary fibrosis ORPHA:3337
Wolf-Hirschhorn Syndrome
Abnormality of the philtrum, Ataxia, Cleft upper lip, Cryptorchidism, Abnormality of the gallblad... ORPHA:280
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Dental crowding, Cleft hard palate, Asplenia, Short philtrum, Bifid uvula, Abnormal dental morpho... ORPHA:261537
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Hypertriglyceridemia, Small for gestational age, Pneumonia, Hyp... OMIM:264090
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Johanson-Blizzard Syndrome
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Hypoplasia of the primary ... OMIM:243800
Fraser Syndrome 1
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypospadias, Precocious puberty, Postnatal growth retardation, Disproportionate short stature, Tr... OMIM:210720
Autosomal Dominant Cutis Laxa
Bronchiectasis, Feeding difficulties, Pyelonephritis, Vomiting, Small bowel diverticula, Bronchio... ORPHA:90348
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections OMIM:248500
Thrombocytopenia-Absent Radius Syndrome
Short stature, Seborrheic dermatitis, Pancreatic cysts, Cleft palate, Hepatosplenomegaly, Aplasia... OMIM:274000
Eisenmenger Syndrome
Respiratory distress, Hepatomegaly, Increased pulmonary vascular resistance, Abdominal distention... ORPHA:97214
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism, Cleft palate, Stillbirth, Lissencephaly, Pulmonary hypoplasia, Neon... OMIM:256520
Larsen Syndrome
Depressed nasal bridge, Cleft upper lip, Cryptorchidism, Cleft palate, Hypodontia, Tracheal stenosis OMIM:150250
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Asthma, Obesit... ORPHA:444077
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hypomagnese... ORPHA:94093
Gm1 Gangliosidosis Type 1
Macroglossia, Aspiration pneumonia, Intrauterine growth retardation ORPHA:79255
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Weight loss, Testicular teratoma ORPHA:764
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, In... ORPHA:68
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Aplasia of the uterus, Gastrostomy tube feeding in infancy ORPHA:457284
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Hyperhidrosis, Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Pyelonephritis, Pituitary growth hormone cell adenoma... ORPHA:730
Familial Thrombocytosis
Splenomegaly, Pulmonary arterial hypertension, Hyperhidrosis, Weight loss ORPHA:71493
African Trypanosomiasis
Hepatomegaly, Pericarditis, Aggressive behavior, Keratitis, Splenomegaly, Diarrhea, Jaundice, Myo... ORPHA:3385
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenome... ORPHA:309282
Restrictive Dermopathy
Natal tooth, Aplasia/Hypoplasia involving the nose, Choanal atresia, Aplasia/Hypoplastia of the e... ORPHA:1662
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Dental crowding, Cleft hard palate, Asplenia, Short philtrum, Bifid uvula, Abnormal dental morpho... ORPHA:261552
Pyknoachondrogenesis
Abdominal distention, Abnormality of mouth shape, Depressed nasal ridge ORPHA:3003
Sponastrime Dysplasia
Rhizomelia, Recurrent pneumonia, Disproportionate short-limb short stature, Neutropenia, Intraute... ORPHA:93357
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia OMIM:193300
Gerstmann-Straussler Disease
Aggressive behavior, Weight loss OMIM:137440
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Bifid uterus, Splenomega... ORPHA:2729
Chondrodysplasia Punctata 2, X-Linked Dominant
Tracheal stenosis, Concave nasal ridge, Erythroderma OMIM:302960
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Short stature, Celiac disease, Cryptorchidism, Precocious... ORPHA:2044
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Renal Nutcracker Syndrome
Weight loss, Nausea, Abdominal pain ORPHA:71273
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Short stature, Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Thrombocytopenia OMIM:301072
Immunodeficiency 47
Recurrent bacterial infections, Recurrent infections OMIM:300972
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Mild short stature, Rhizomelia, Disproportionate short-limb short stature, Protuberant abdomen OMIM:618019
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Narrow palate, Anteri... OMIM:276820
Pmm2-Cdg
Respiratory distress, Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth ho... ORPHA:79318
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Abdominal pain, Pancreatic cysts, Myocar... ORPHA:892
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Rhizomelia, Hypospadias OMIM:615877
Atresia Of Urethra
Abdominal distention, Ascites ORPHA:105
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... OMIM:245150
Down Syndrome
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia OMIM:190685
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
Pallister-Killian Syndrome
Small scrotum, Anteriorly placed anus, Apneic episodes in infancy, Bifid uvula, Hyperventilation,... OMIM:601803
Tuberous Sclerosis 1
Precocious puberty, Hypothyroidism, Adenoma sebaceum, Pulmonary lymphangiomyomatosis OMIM:191100
Vascular Ehlers-Danlos Syndrome
Hypospadias, Short stature, High, narrow palate, Cryptorchidism, Pneumothorax, Cystocele, Pulmona... ORPHA:286
Genitopatellar Syndrome
Anal stenosis, Cryptorchidism, Malrotation of small bowel, Feeding difficulties, Anteriorly place... OMIM:606170
Early Infantile Epileptic Encephalopathy
Precocious puberty, Pachygyria, Cleft palate, Micropenis, Failure to thrive ORPHA:1934
Lmna-Related Cardiocutaneous Progeria Syndrome
Abnormal intrahepatic bile duct morphology, Emphysema ORPHA:363618
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Neonatal respiratory distress, Hepatomegaly, Intestinal malrota... OMIM:312870
Fraser Syndrome 3
Wide nose, Convex nasal ridge, Stillbirth, Ascites, Tracheal atresia OMIM:617667
Neurofibromatosis Type 1
Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Pheochrom... ORPHA:636
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Narrow palate, Cleft palate, Congenital hypothyroidism... ORPHA:79500
Loeys-Dietz Syndrome
High palate, Bifid uvula, Uterine rupture ORPHA:60030
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve... ORPHA:91500
Tuberous Sclerosis 2
Precocious puberty, Hypothyroidism, Adenoma sebaceum, Pulmonary lymphangiomyomatosis OMIM:613254
Yunis-Varon Syndrome
Absent nipple, Small for gestational age, Failure to thrive in infancy, Hypospadias, Pyloric sten... OMIM:216340
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Upper airway obstruction, Weight loss, High palate, Severe failure to thrive, Pul... ORPHA:740
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Oral ulcer, Lymphadenopathy, Ab... ORPHA:536
Niemann-Pick Disease Type C
Hepatomegaly, Splenomegaly, Abnormal lung morphology, Jaundice, Respiratory insufficiency, Hepato... ORPHA:646
Tolchin-Le Caignec Syndrome
Precocious puberty, Submucous cleft hard palate, High palate OMIM:618971
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Growth delay, Recurrent Staphylococcus aureus infections, Sept... ORPHA:642
17Q11 Microdeletion Syndrome
Short stature, Gastrointestinal stroma tumor, Precocious puberty, Abnormal lung morphology, Glomu... ORPHA:97685
Goodpasture Syndrome
Glomerulonephritis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory def... OMIM:233450
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cftr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cftr.

No publications found that use IMPC mice or data for Cftr.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cftrtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Cftrtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Cftrtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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