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Gene: Jak1 MGI:96628

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Janus kinase 1

Synonyms:

C130039L05Rik, BAP004

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 Jak1 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.

Human diseases associated with Jak1 (1 diseases)
Human diseases predicted to be associated with Jak1 (2377 diseases)

The table below shows human diseases associated to Jak1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autoinflammation, Immune Dysregulation, And Eosinophilia		Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999

The table below shows human diseases predicted to be associated to Jak1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosplenomeg...	OMIM:603553
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin...	ORPHA:2298
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Adamantinoma	Hypercalcemia	ORPHA:55881
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C...	OMIM:618048
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Leuk...	OMIM:615934
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Increased circulating lacta...	ORPHA:232
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc...	OMIM:604416
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi...	OMIM:308240
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Ly...	ORPHA:37748
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin...	ORPHA:37042
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Thrombocytopenia, Hypocholesterolemia, Anemia	OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Posteriorly rotated ears, Elevated circulating C-reactive protein concentration, Microcytic anemi...	OMIM:619750
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Alopecia, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Incr...	ORPHA:169154
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody...	ORPHA:90362
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Increased circulating IgG level, Inflammation of the large in...	ORPHA:98813
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy...	ORPHA:231226
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hyponatremia, Hyp...	ORPHA:199299
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Sensorineural hearing impairment, Hypophosphatemia	OMIM:241520
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati...	ORPHA:766
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration...	OMIM:616050
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre...	ORPHA:397596
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Hypothyroidism, Decreased circulating antibody level, Iron deficiency anemia, Hypoa...	OMIM:226300
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam...	OMIM:246450
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thromboc...	OMIM:603554
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 43	Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:241600
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ...	OMIM:618987
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Nephropathy, Elevated c...	ORPHA:29073
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Hepatospl...	OMIM:619013
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,...	ORPHA:3261
X-Linked Agammaglobulinemia	Sinusitis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis media, Recurrent cutaneous a...	ORPHA:47
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia	OMIM:619164
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei...	ORPHA:64743
Fanconi-Bickel Syndrome	Osteopenia, Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepato...	ORPHA:2088
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascite...	ORPHA:100025
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Proteinuria,...	ORPHA:275555
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea	OMIM:615228
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Weight loss, Anemia, Neoplasm of the liver, Lymphadenopathy, Hemat...	ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Posteriorly rotated ears, Elevated circulating aspartate aminotransfe...	OMIM:614727
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, H...	OMIM:619487
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Pruritus, Abnormal circulating porphyrin concentration, Erythema, Decr...	ORPHA:79278
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia, ...	OMIM:617303
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro...	ORPHA:2123
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity...	OMIM:617718
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodo...	ORPHA:79259
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus, Death in childhood	OMIM:200900
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Decr...	OMIM:232220
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Alg12-Cdg	Redundant skin, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification, Hypocholeste...	ORPHA:79324
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Gastrointestinal inflammation, Abnormal intrahepatic bile duct mor...	ORPHA:186
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Ascit...	OMIM:608104
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolem...	OMIM:212065
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Dengue Fever	Hepatomegaly, Skin rash, Petechiae, Pruritus, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of th...	ORPHA:77297
Lymphangiectasia, Intestinal	Lymphopenia, Abnormal hair morphology, Intestinal lymphangiectasia, Decreased circulating IgG lev...	OMIM:152800
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine...	ORPHA:172
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Renal cyst, Focal se...	OMIM:617056
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O...	ORPHA:77296
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Proteinuria, Abnormal...	ORPHA:369
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Johanson-Blizzard Syndrome	Alopecia, Hypoplasia of penis, Hypospadias, Diabetes mellitus, Abnormal hair pattern, Abnormality...	ORPHA:2315
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepa...	ORPHA:171
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouric...	OMIM:227810
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem...	ORPHA:20
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Sensorineur...	ORPHA:2668
H Syndrome	Microcytic anemia, Micropenis, Alopecia, Psoriasiform dermatitis, Abnormality of the kidney, Bron...	ORPHA:168569
Trichohepatoenteric Syndrome 1	Brittle hair, Hypoalbuminemia, Hepatic fibrosis, Sparse hair, Hepatomegaly, Hypospadias, Increase...	OMIM:222470
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Hyp...	OMIM:241500
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiec...	OMIM:235255
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s...	OMIM:613101
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Petechiae...	ORPHA:83313
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Lesch-Nyhan Syndrome	Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia	ORPHA:510
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Cong...	OMIM:617872
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures,...	ORPHA:2959
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici...	ORPHA:1667
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati...	OMIM:613179
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Sensorineural hearing impairment, Anemia	ORPHA:294
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat...	ORPHA:231214
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phospha...	ORPHA:562
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Eczema, H...	OMIM:170100
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypoca...	OMIM:619991
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:86841
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Microcytic anemia, Dry skin, Cutis laxa, Low-set ears, Fai...	OMIM:612379
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-r...	ORPHA:79083
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ...	OMIM:616026
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria,...	OMIM:604273
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urinary tract infections,...	OMIM:618495
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filt...	OMIM:232200
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, ...	ORPHA:95409
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple...	OMIM:603552
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia	ORPHA:1802
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ...	ORPHA:91139
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p...	ORPHA:284426
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Microcytic anemia, Increased circulating...	OMIM:600462
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morp...	ORPHA:1655
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Pallor, Unco...	OMIM:300908
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Hypoglycemia, Thro...	OMIM:606054
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Spleno...	OMIM:239200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista...	OMIM:604367
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Abnormality of the endocrine s...	ORPHA:2905
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin...	OMIM:251880
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline p...	ORPHA:89937
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Decreased circulating parathyroid hormone level, Ab...	OMIM:241530
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:158048
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Eczema, Osteoporosis, Rickets, Thyroi...	OMIM:212750
Congenital Erythropoietic Porphyria	Osteopenia, Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scal...	ORPHA:79277
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Increased circulating ...	OMIM:259700
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, ...	ORPHA:134
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Hearing impairment, Pruritus, Sple...	OMIM:619658
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Aggressive Systemic Mastocytosis	Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosple...	ORPHA:98850
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Decreased circulating I...	OMIM:300400
Hypophosphatasia	Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Craniosynostosis, Anemia	ORPHA:436
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D...	ORPHA:79320
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Pallor, Decreased proportion of CD3-positive T cells, Decre...	ORPHA:331206
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi...	OMIM:300635
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea	OMIM:610992
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ...	OMIM:607765
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Partial absence of specific antibody response to t...	OMIM:619824
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuri...	ORPHA:54057
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Rickets, R...	ORPHA:213
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym...	ORPHA:158057
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin...	OMIM:620210
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo...	ORPHA:85443
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Elevated circulating C-rea...	OMIM:613011
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast...	ORPHA:264580
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Renal agenesis, Splenomegaly, Elbow flexi...	OMIM:618440
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Syndromic Diarrhea	Brittle hair, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypoplasia of the thymus, Hepa...	ORPHA:84064
Fibrodysplasia Ossificans Progressiva	Failure to thrive, Alopecia, Limitation of joint mobility, Ectopic ossification in ligament tissu...	ORPHA:337
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho...	ORPHA:75564
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Rheumatoid factor ...	OMIM:615816
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trab...	OMIM:277440
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst, Ab...	ORPHA:79303
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Duplicated collecting system, Small for gestational age, Elevated circulating aspar...	OMIM:617093
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thri...	OMIM:618278
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo...	ORPHA:67044
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent...	OMIM:210250
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Pallor, Abnormal bone structure	ORPHA:46532
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent...	OMIM:601457
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Scaling skin, Hypothyroidism, Alopecia universalis, Hemolytic anemia, Psoriasi...	OMIM:606367
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome...	OMIM:612714
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab...	ORPHA:2204
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre...	OMIM:610377
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Generalized amin...	OMIM:264700
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Caspase 8 Deficiency	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr...	ORPHA:94093
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa...	OMIM:613280
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytop...	ORPHA:292
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Rh Deficiency Syndrome	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Positive direct antiglobulin ...	ORPHA:71275
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co...	OMIM:617099
Srd5A3-Cdg	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Hearing imp...	ORPHA:324737
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio...	ORPHA:251004
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell...	OMIM:617575
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic ...	ORPHA:2494
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:300555
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Small for gestational age, Elevated circulating creatine kinase concentra...	OMIM:612073
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p...	ORPHA:209004
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Brittle hair, Increased circulating IgA level, Abdominal adhesions, Low-set ears, Ne...	OMIM:616395
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ...	ORPHA:101330
Forsythe-Wakeling Syndrome	Osteoporosis, Nephrotic syndrome, Low-set ears, Decreased body weight, Macrotia, Thrombocytopenia	OMIM:613606
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating osteocalcin level, Hyperphosphaturia, Elevated alkaline phosphatase of bone...	ORPHA:157215
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Skin ulcer, Weight loss, Decreased circulating antibody le...	ORPHA:33355
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati...	OMIM:610198
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Broad eyebrow, Neutrophilia, Severe periodontitis, Small for gestational age, Recur...	ORPHA:99843
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:600081
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Decre...	OMIM:242150
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Splenom...	OMIM:259720
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash...	OMIM:617591
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Thick hair, Joint stiffness, Heparan sulfate excretion in urine, Thrombocytopenia, F...	ORPHA:505248
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h...	ORPHA:171706
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Dry skin...	ORPHA:2584
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytop...	OMIM:301080
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Ch...	OMIM:616005
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Hypospadias, Hypercalcemia, Craniosynostosis, Decreased response to growth hormone st...	OMIM:614732
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem...	OMIM:619525
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level,...	OMIM:617744
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Glucagonoma	Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intermittent jaundice, Increased cir...	ORPHA:97280
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Thic...	ORPHA:263501
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Chronic noninf...	ORPHA:97289
Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast...	OMIM:258900
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia, Abnormality of the kidney, Abnormal hair morphology, Lim...	ORPHA:2591
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin-resis...	ORPHA:411593
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto...	OMIM:615688
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti...	ORPHA:90060
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Immunodeficiency 104	Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia, Lymphadenop...	OMIM:608971
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Antineutrophil antibody positivity, Spl...	OMIM:301078
Juvenile Paget Disease	Recurrent fractures, Hearing impairment, Cranial hyperostosis, Osteoporosis, Hyperuricemia, Coars...	ORPHA:2801
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Hypospadias, Microcytic anemia, Aplasia/Hypoplasia of the earl...	ORPHA:98791
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibro...	ORPHA:14
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ...	ORPHA:182050
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Thrombocytopenia, Arthritis, Transient hearing impa...	ORPHA:448237
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Microvesicular hepatic steatosis, Hypochromic...	ORPHA:66634
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Stage 3 chronic kidney disease, Hyperparathyroidism, Cortical scl...	OMIM:620366
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal...	ORPHA:97282
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ...	ORPHA:289157
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss...	OMIM:300009
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Cyclic neutropenia, Chronic pancr...	OMIM:232240
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo...	OMIM:235200
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Lymph...	ORPHA:47612
Omenn Syndrome	Hepatomegaly, Failure to thrive, Alopecia, Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Splen...	ORPHA:39041
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis...	ORPHA:77259
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia	ORPHA:88643
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Follicul...	OMIM:614470
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo...	ORPHA:811
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic steatosis, Joint...	OMIM:613658
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep...	ORPHA:93552
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, 3-Methylglutaconic aciduria, Decreased liver function, Failure to thrive, Thrombocy...	ORPHA:67048
Drug-Induced Lupus Erythematosus	Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki...	ORPHA:231111
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m...	OMIM:619423
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure...	ORPHA:277
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Leukocyto...	ORPHA:2070
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal...	ORPHA:446
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm...	ORPHA:229717
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Splenomegaly, R...	ORPHA:667
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi...	OMIM:616100
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla...	OMIM:619386
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Candidiasis, Familial, 1	Alopecia, Cutaneous anergy, Chronic mucocutaneous candidiasis, Abnormality of the endocrine system	OMIM:114580
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont...	ORPHA:367
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb...	ORPHA:79319
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibro...	OMIM:602579
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious...	ORPHA:369837
Pontocerebellar Hypoplasia Type 4	Central apnea, Respiratory failure requiring assisted ventilation	ORPHA:166063
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed...	OMIM:300554
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Proteinuria, Thrombocytopenia	OMIM:189800
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Dermatitis Herpetiformis	Eczema, Recurrent fractures, Microcytic anemia, Pruritus, Autoimmunity, Erythema, Skin vesicle	ORPHA:1656
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Nephroli...	ORPHA:93160
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo...	ORPHA:797
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi...	ORPHA:249
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pne...	OMIM:618282
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pulsatile tinnitus, Hypercalcemia, Elevated urinary norepinephrin...	ORPHA:94080
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria	ORPHA:67046
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc...	ORPHA:90363
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, General...	OMIM:613388
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react...	OMIM:620321
Mitochondrial Dna Depletion Syndrome 18	Failure to thrive, Lacticaciduria, Microcytic anemia	OMIM:618811
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:619048
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia, El...	ORPHA:67
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Hypophosphatemic Rickets, X-Linked Dominant	Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Rickets, Renal phosphat...	OMIM:307800
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, F...	ORPHA:79312
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hyperphosphaturia, Hypoparathyroidism, Hypercalcemia, Hypercalciuria...	OMIM:156400
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnorm...	ORPHA:2796
Acatalasemia	Severe periodontitis, Reduced catalase level, Microcytic anemia, Type II diabetes mellitus, Type ...	ORPHA:926
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Jaundice, Flexion contracture, Hypoproteinemia	OMIM:608093
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Sézary Syndrome	Hepatomegaly, Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Dry skin, Lymphade...	ORPHA:3162
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Paronychia, Low alkaline...	OMIM:201100
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnorm...	ORPHA:79239
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Congenital Analbuminemia	Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In...	ORPHA:86816
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Os...	ORPHA:2169
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromi...	ORPHA:440713
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Craniosynostosis, Erythema, Onychogryposis, Decreased circul...	ORPHA:79396
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:615158
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Erythem...	ORPHA:343
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Increased mean pl...	OMIM:314050
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Hypophosphatemia, Abnormality of the kidney, Reduced bone mineral density	ORPHA:2611
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Protruding ear, Nephrocalcinosis, Oligosacchariduria, Aminoac...	ORPHA:534
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur...	OMIM:230350
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula...	ORPHA:449400
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Anemia, Dec...	OMIM:612301
Immune Thrombocytopenia	Platelet antibody positive, Thrombocytopenia	OMIM:188030
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Sensorineural hearing impairment, Schistocytosi...	OMIM:616084
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated e...	OMIM:617475
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga...	OMIM:208085
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Increased urine succinate level, Bilateral fetal py...	OMIM:606812
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne...	ORPHA:169160
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A...	OMIM:137920
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Alopecia, Recurrent p...	OMIM:616576
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi...	OMIM:251000
Immunodeficiency 17	Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly...	OMIM:615607
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Elevated circulating creatine kinase conc...	OMIM:616809
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Sensorineu...	OMIM:617950
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc...	ORPHA:858
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie...	OMIM:245900
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Eosinophilia, Recurrent pneumonia, ...	OMIM:147060
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c...	ORPHA:48818
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration,...	OMIM:266510
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Limitation of joint mobility, Nephrotic syndrome,...	ORPHA:79327
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Leukopeni...	ORPHA:27
Myasthenic Syndrome, Congenital, 16	Apnea	OMIM:614198
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Immunodeficiency 48	Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczema...	OMIM:269840
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Dent Disease	Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin...	ORPHA:1652
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephr...	OMIM:215250
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,...	OMIM:176920
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Tempi Syndrome	Abnormality of the kidney, Facial erythema, Increased circulating IgG level, Increased hematocrit...	ORPHA:284227
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Low anterior hair...	ORPHA:261222
Klippel-Trénaunay Syndrome	Hematuria, Hepatomegaly, Ascites, Microcytic anemia	ORPHA:90308
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia, Anemia	OMIM:610090
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglyce...	ORPHA:469
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Oculoskeletodental Syndrome	Hypercalcemia, Sensorineural hearing impairment, Hypocalcemia, Conductive hearing impairment, Hea...	ORPHA:557003
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Scaling skin, Acute h...	ORPHA:39812
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Proteinuria, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Abnormality of the kidney, Sensorineural hearing impairment, Giant pl...	OMIM:155100
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage...	OMIM:613496
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Osteoporos...	ORPHA:98849
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Congenital sensorineura...	OMIM:619147
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Sensorineural hearing impairment	ORPHA:71289
Lysinuric Protein Intolerance	Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Osteoporosis, Anemia, Recurrent fractures, ...	OMIM:222700
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Severe Neonatal-Onset Encephalopathy With Microcephaly	Apnea, Respiratory insufficiency	ORPHA:209370
Crimean-Congo Hemorrhagic Fever	Stiff neck, Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating...	ORPHA:99827
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Craniosynostosis, Low alkaline phosp...	OMIM:241510
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pallor, Failure to thrive	OMIM:613561
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc...	OMIM:229600
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced p...	OMIM:617443
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Hematur...	ORPHA:319251
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Increased circulating lactat...	ORPHA:824
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, V...	OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Hypogonadotropic hypogonadism, Highly arched eyebrow, ...	ORPHA:293967
Angiostrongyliasis	Stiff neck, Increased circulating IgA level, Pruritus, Hypereosinophilia, Increased circulating s...	ORPHA:74
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Abnormal n...	ORPHA:3392
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg...	OMIM:618347
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced...	OMIM:614699
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Petechiae, Hypospadias, Adrenal hypoplasia, Hyp...	OMIM:617053
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Sensorineur...	ORPHA:760
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous...	ORPHA:822
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosis, Glomerulopathy, Multicystic kidney dys...	ORPHA:93111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N...	ORPHA:289916
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemic pallor, Anemia of inad...	ORPHA:86839
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Tick-Borne Encephalitis	Elevated hepatic transaminase, Stiff neck, Elevated circulating C-reactive protein concentration,...	ORPHA:297
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Increased urine alpha-ketoglutara...	ORPHA:2394
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Hypochromic anemia, Low-set ears, Microcytic anemia	OMIM:618451
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Chondritis	ORPHA:564003
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, Sk...	ORPHA:1775
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Ravine Syndrome	Apnea	ORPHA:99852
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ...	OMIM:277380
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Sensorineural hearing impairment, Hype...	OMIM:619046
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine c...	ORPHA:101028
Bone Marrow Failure Syndrome 4	Eczema, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellu...	OMIM:618116
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Splenomegaly, Jaund...	ORPHA:905
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating...	OMIM:242860
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Osteoporosis, Lymphaden...	ORPHA:98848
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Podagra,...	OMIM:300322
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Proteinuria, Splenomegaly, Skin ulcer, Reduced bone m...	ORPHA:834
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel...	OMIM:187800
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th...	OMIM:619155
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Sensorineural hearing impairment, Hyperur...	ORPHA:411536
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremi...	OMIM:235400
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Neph...	OMIM:145001
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Decreased methionine synthase activ...	OMIM:236270
Thrombocytopenia 3	Thrombocytopenia, Petechiae, Decreased mean platelet volume	OMIM:273900
Babesiosis	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Splenomegaly, Jaundice, Limitation of joint ...	ORPHA:108
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H...	OMIM:262400
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Sensorineu...	OMIM:615438
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer...	OMIM:618394
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:100026
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Aca...	ORPHA:71
Hamamy Syndrome	Osteopenia, Hypoparathyroidism, Sparse eyelashes, Recurrent fractures, Craniosynostosis, Microcyt...	OMIM:611174
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,...	OMIM:122860
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Uplifted earlobe, Epiphyseal stippling, Type I diabetes mellitus, Fai...	ORPHA:251009
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Shigellosis	Abnormal blood ion concentration, Uveitis, Conjunctivitis, Acute colitis, Hyponatremia, Abscess, ...	ORPHA:810
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa...	OMIM:261000
Mixed Connective Tissue Disease	Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolytic anemia, Joint stiffness, Al...	ORPHA:809
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Sensorineural hearing impairment, Clavicul...	ORPHA:2790
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Mody	Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,...	ORPHA:552
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Cockayne Syndrome	Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Renal hypoplasia, Contractu...	ORPHA:191
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Decreased ...	OMIM:243700
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In...	ORPHA:210136
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula...	OMIM:600740
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Sensorineural hearing impairment, Cranial hyperostosis, Abnormal cort...	ORPHA:3416
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Posteriorly rotated ears, Failure to thrive in infancy, Portal hypert...	OMIM:613385
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Sensorineural hearing impairment, 3-Methylglutaconic...	OMIM:618329
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Redundant neck skin, P...	OMIM:301056
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Sensorineural hearing impairment, Gout, Hyperuricosuria, Arthr...	ORPHA:411543
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Glomerulopathy, Circulating immu...	ORPHA:91138
Developmental And Epileptic Encephalopathy 61	Apnea	OMIM:617933
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Sensorineural hearing impairment, Fing...	ORPHA:3152
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Increased bone mineral density, Reticulocytosis, Petechiae, Recurrent fractures, Sp...	OMIM:611490
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, Neutropenia, Sparse hair, Sm...	OMIM:617052
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ...	ORPHA:99829
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Renal tubular dysfunction, Hyperbilirubinemia, Decreased body weig...	OMIM:614886
Osteopetrosis With Renal Tubular Acidosis	Elevated circulating creatine kinase concentration, Leukopenia, Hypocalcemia, Conductive hearing ...	ORPHA:2785
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Decreased circulating IgG level, Severe B lympho...	OMIM:620005
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Renal insufficiency, Posteriorly rotated ears, Failure to thrive in infancy, Hypospad...	OMIM:611209
Porphyria, Congenital Erythropoietic	Osteopenia, Hepatomegaly, Hemolytic anemia, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Los...	OMIM:263700
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ...	OMIM:615508
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Nail pi...	OMIM:127550
Mitochondrial Complex I Deficiency, Nuclear Type 4	Apnea, Death in childhood	OMIM:618225
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu...	ORPHA:529799
Atelis Syndrome 1	Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Thrombocytopenia, Bronchiecta...	OMIM:620184
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven...	ORPHA:2257
L-Ferritin Deficiency	Alopecia, Decreased circulating ferritin concentration	OMIM:615604
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Small for gestational age, Hypospadias, Sensorineural hearing impairment, Ur...	OMIM:300661
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Skin rash, Maculopap...	ORPHA:398124
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-...	OMIM:610333
Cinca Syndrome	Hepatomegaly, Purpura, Abnormality of thrombocytes, Elevated circulating C-reactive protein conce...	ORPHA:1451
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Neonatal hypoglycemia, Large for gestational age, Cardiomeg...	ORPHA:116
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Sensorineural hearing impairment, Hyperuricemia	ORPHA:3222
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Thick hair, Splenomegaly, Elevate...	OMIM:613489
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Increased susceptibility to fractures, Renal p...	ORPHA:352540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Recurrent skin infections, Decreased serum iron, Flexion contracture, Anemia, ...	ORPHA:89842
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Organic aciduria, Propionyl-CoA carboxylase deficiency	ORPHA:35
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia	ORPHA:1059
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Autoimmunity, Large for gestational age, Increased circulating free fatt...	ORPHA:293964
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea	OMIM:618236
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation, Respiratory insufficiency	OMIM:300673
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Squalene Synthase Deficiency	Posteriorly rotated ears, Failure to thrive in infancy, Hypospadias, Increased circulating farnes...	OMIM:618156
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hypocalcemia	ORPHA:163693
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Glucose intolerance, Hepatic steatosis, Alopecia, Acne, Osteoporosis, Incr...	ORPHA:189427
Mitochondrial Complex I Deficiency, Nuclear Type 13	Death in infancy, Apnea	OMIM:618235
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Osteoporosis, Bili...	ORPHA:79301
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Hypercalcemia,...	ORPHA:276621
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck...	ORPHA:79332
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia, Dry skin	ORPHA:1954
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Pruritus, In...	OMIM:601847
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p...	ORPHA:314811
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Petec...	ORPHA:90051
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Apnea, Respiratory insufficiency	OMIM:617290
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl...	OMIM:617156
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop...	ORPHA:79078
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Pallor, Abnormality of iron hom...	ORPHA:75563
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia	OMIM:614741
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma...	ORPHA:3337
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Failure ...	OMIM:615198
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynostosis, Eczema, Pruritus, Eo...	ORPHA:2314
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Dicarboxylic acidur...	ORPHA:289504
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Hypourice...	ORPHA:3467
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul...	OMIM:619752
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Ck Syndrome	Slender build, Abnormal cortical bone morphology, Posteriorly rotated ears, Joint hypermobility	OMIM:300831
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Ethylmalonic aciduria, In...	ORPHA:26792
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,...	OMIM:615160
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu...	OMIM:274150
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic anemia, Hyperhomocystine...	OMIM:250940
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Sensorineural hearing impairment, Leukocyt...	ORPHA:3226
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Hepatic steatosis, Profound hearing impairment, Accessory splee...	OMIM:619418
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Renal insufficiency, Small for gestational age, Proteinuria, Abnormal i...	OMIM:242900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Autoimmunity, Autoimmune hypoparathyroid...	ORPHA:36913
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Autoimmunity, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg...	ORPHA:2930
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co...	OMIM:616740
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Sensorineural hearing impairment, Thrombocytopen...	ORPHA:290
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Small for gestational age, Autoimmunity, Pruritus, Abno...	ORPHA:69665
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal pinna m...	ORPHA:79147
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocy...	OMIM:619510
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Thrombocytopenia, Peritonitis, Leukocytosis, Elevated circ...	ORPHA:90038
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Neutropenia, Ly...	OMIM:300988
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po...	OMIM:616959
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Ab...	ORPHA:160
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Colchicine Poisoning	Hyponatremia, Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concen...	ORPHA:31824
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic...	OMIM:235555
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Abnormal fingernail morphology, Pruritus, Splenomegaly, Crustin...	ORPHA:742
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,...	OMIM:616433
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca...	ORPHA:96180
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy	ORPHA:500545
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure	ORPHA:664
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Familial Expansile Osteolysis	Osteolysis, Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration, Conductiv...	OMIM:174810
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Au...	ORPHA:391487
Monosomy 13Q34	Posteriorly rotated ears, Hypercalcemia, Fetal pyelectasis, Insulin resistance, Abnormal earlobe ...	ORPHA:96168
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Small for gestational age, Thrombocytopenia, Cutis l...	ORPHA:79325
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Renal cyst, Elevated circulating alkaline phosphatase concentration, As...	OMIM:174050
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l...	ORPHA:829
Galactosemia I	Hepatomegaly, Hemolytic anemia, Hypergonadotropic hypogonadism, Elevated circulating aspartate am...	OMIM:230400
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Hepatomegaly, Abnormally ossified vertebrae, Failure to thrive...	ORPHA:175
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th...	ORPHA:83471
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Holocarboxylase Synthetase Deficiency	Alopecia, Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Thrombocyt...	ORPHA:79242
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly...	OMIM:602450
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Overlap Myositis	Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat...	ORPHA:206572
Benign Familial Neonatal Epilepsy	Apnea	ORPHA:1949
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Leigh Syndrome	Multiple joint contractures, Complex organic aciduria, Neutropenia, Frontal hirsutism, Alopecia, ...	ORPHA:506
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Posteriorly rotated ears, Urinary incontinence, Conducti...	OMIM:618885
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla...	OMIM:275350
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Iron deficiency anemia, Neutropenia, Progressive sensorineural he...	ORPHA:494444
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Cranial hyperostos...	ORPHA:330015
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia	OMIM:227090
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Hypercalcemia,...	ORPHA:29072
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating aspartate aminotransferase c...	OMIM:608779
Erythrocytosis, Familial, 4	Pruritus, Increased hemoglobin, Increased hematocrit, Polycythemia, Elevated circulating erythrop...	OMIM:611783
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl...	ORPHA:206594
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ...	ORPHA:3363
Immunodeficiency 22	Decreased circulating IgG level, Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Decreased...	OMIM:615758
Bloom Syndrome	Decreased circulating IgG level, Small for gestational age, Elevated hemoglobin A1c, Bronchiectas...	OMIM:210900
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ...	ORPHA:355
Benign Familial Neonatal-Infantile Seizures	Apnea	ORPHA:140927
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Abnormal circulating calcium concentration, Red...	OMIM:619795
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Primary hyperpara...	ORPHA:143
Joubert Syndrome 33	Apnea	OMIM:617767
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Tu...	ORPHA:340
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ...	OMIM:614857
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia, Hypospadias, Hearing impairment	OMIM:618972
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Autoimmunity, Craniosynostosis, Kerati...	ORPHA:525731
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu...	ORPHA:99901
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Sensorineural hearing impairment, Hypoproteinemia	OMIM:221400
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Abcd Syndrome	White eyelashes, White eyebrow, Abnormal auditory evoked potentials, Large for gestational age, A...	OMIM:600501
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Ollier Disease	Joint stiffness, Precocious puberty, Osteolysis, Skin ulcer, Lymphangioma, Anemia	ORPHA:296
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Ogden Syndrome	Redundant neck skin, Redundant skin, Maternal diabetes, Cardiomegaly, Microvesicular hepatic stea...	OMIM:300855
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co...	OMIM:618183
Plummer-Vinson Syndrome	Concave nail, Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Pallor, Decreased...	ORPHA:54028
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Erythema, Osteolysis, Lymphadenopathy, Anemia	ORPHA:158014
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea, Respiratory insufficiency	OMIM:618198
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec...	OMIM:614493
Porphyria Cutanea Tarda	Alopecia, Reduced uroporphyrinogen decarboxylase activity, Porphyrinuria, Onycholysis, Cirrhosis,...	OMIM:176100
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Posteriorly rotated ears, Hypoglycemia, Sensorineura...	OMIM:618958
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili...	ORPHA:69126
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract...	ORPHA:52430
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia, Increased erythrocyte prot...	OMIM:300752
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Hypoglycemia, Alopecia totalis, Decreased response to gro...	OMIM:615577
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Craniosynostosis, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasi...	OMIM:618523
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Abnormal pinna morphology, Eleva...	ORPHA:26791
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in...	ORPHA:405
Immunodeficiency, Common Variable, 11	Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory...	OMIM:615767
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Skin rash, Abnormal hair morphology, Erythema, Weight loss, Protrudi...	ORPHA:317
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc...	OMIM:601678
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Alopecia, Fair hair, Inappropriate antidiureti...	ORPHA:79330
Raine Syndrome	Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn...	OMIM:259775
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:245400
Primary Familial Polycythemia	Pruritus, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria...	ORPHA:99845
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypospadias, Hypoglycemia, Bronchiectasis, Hyperammonemia, Aspiration ...	OMIM:618253
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Purpura, Renal insufficiency, Abnormality of n...	ORPHA:33226
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Hemolytic anemia, Skin rash, Chilblains, Pneumonia, Pancytopeni...	OMIM:615846
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Aicardi-Goutieres Syndrome 5	Chilblains, Flexion contracture, Increased circulating interferon-gamma concentration, Scaling sk...	OMIM:612952
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Ring Chromosome 10 Syndrome	Abnormal antihelix morphology, Large earlobe, Hypocalcemia, Low-set ears	ORPHA:1438
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr...	OMIM:619573
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis m...	ORPHA:275
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Abnormality of ...	OMIM:612840
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ...	ORPHA:99931
Pontocerebellar Hypoplasia, Type 6	Apnea, Death in childhood	OMIM:611523
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Alopecia, Sensorineural hearing impairmen...	OMIM:215100
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic...	OMIM:614866
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair	ORPHA:505
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Megaloblastic anemia, Abnormal circulating...	ORPHA:51208
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pattern of respiration	OMIM:608800
Roifman Syndrome	Hip contracture, Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Hyperconvex nail, Delayed p...	ORPHA:353298
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Ectopic kidney, Sensorineural hearing imp...	OMIM:235510
Joubert Syndrome 9	Apnea, Episodic tachypnea	OMIM:612285
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Primary hyperpara...	ORPHA:99880
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro...	OMIM:606003
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly...	OMIM:253260
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Obesity, Pseudohypo...	OMIM:612462
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Dry skin, Ascites, Hyp...	OMIM:610965
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Mitochondrial Complex I Deficiency, Nuclear Type 6	Apnea, Respiratory insufficiency	OMIM:618228
Glutamine Deficiency, Congenital	Neonatal death, Neonatal respiratory distress, Apnea	OMIM:610015
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, Limitation of joi...	ORPHA:89936
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Lymphangioma, Osteolysis...	ORPHA:73
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Diabetes mellitus, Abnormality of the thyroid gland, Erythe...	ORPHA:542592
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Sparse axillary hair, External ear malformation, Splen...	ORPHA:2136
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Protruding ear, Hypoalb...	OMIM:619534
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos...	ORPHA:98907
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body...	OMIM:231000
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogona...	ORPHA:465508
Hypotonia-Cystinuria Syndrome	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Hypergonadotropi...	OMIM:606407
Myoclonus, Intractable, Neonatal	Apnea	OMIM:617235
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ...	OMIM:251110
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Ab...	OMIM:616733
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Congenital sensorineural hearing impairment, Hyperinsulinemia, Generalized aminoaci...	OMIM:606528
Hereditary Sensory And Autonomic Neuropathy Type 2	Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology,...	ORPHA:970
Congenital Myopathy 11	Neonatal respiratory distress, Apneic episodes in infancy	OMIM:619967
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia, Hydronephrosis, Low-set ears	OMIM:300048
2Q24 Microdeletion Syndrome	Central apnea	ORPHA:1617
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Potocki-Lupski Syndrome	Small for gestational age, Abnormal renal morphology, Hypocholesterolemia, Failure to thrive, Hyp...	OMIM:610883
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing...	OMIM:598500
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Congenital sensorineural hearing impairment, Sensorineur...	ORPHA:73272
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circu...	ORPHA:417
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ...	OMIM:619774
Acquired Purpura Fulminans	Skin rash, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Macular p...	ORPHA:49566
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative...	OMIM:619463
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Abnormal earlobe morphology, Increased susceptibility to fractures, Large ea...	ORPHA:2769
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Pruritus, Splenomegaly, Jaundice, Cirr...	ORPHA:75234
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ...	OMIM:254900
Benign Familial Infantile Epilepsy	Apnea	ORPHA:306
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Brain abscess, Elevated circulating C-reactive protein concent...	ORPHA:97214
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, O...	OMIM:300148
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Elevated urinary vanill...	ORPHA:653
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Protruding ear, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Decreased ci...	ORPHA:221139
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Psoriasiform dermatitis, Acne, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ...	ORPHA:2902
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cho...	ORPHA:774
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent...	ORPHA:329475
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ...	OMIM:600785
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Small for gest...	OMIM:260400
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Osteoporosis, Premature graying of hair, Leuko...	OMIM:613989
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal i...	ORPHA:91500
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy, Bone m...	ORPHA:391
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Erythema nodosum, Splenomegaly...	OMIM:613471
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Alopecia, Aplastic anemia, Urethral stenosis, Osteoporosis, Fin...	OMIM:613990
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Dubowitz Syndrome	Sparse scalp hair, Aplastic anemia, Eczema, Hypospadias, Protruding ear, Acute lymphoblastic leuk...	OMIM:223370
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ...	ORPHA:411629
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Elevated urinary formiminoglu...	OMIM:229100
Combined Oxidative Phosphorylation Deficiency 57	Neonatal death, Death in infancy, Apnea, Central hypoventilation	OMIM:620167
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Penoscrotal hypo...	OMIM:270400
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Obesity, Pseudohypoparathyroidism, Subcutaneous ossification, Hyperphosphatemia, El...	OMIM:103580
Monosomy 22	Low-set, posteriorly rotated ears, Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Hypoc...	ORPHA:96123
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Fair hair, Posteriorly rotated ears, Reduced natura...	OMIM:608233
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, O...	ORPHA:77293
Lassa Fever	Jaundice, Oliguria, Increased circulating IgM level, Conjunctivitis, Hearing impairment	ORPHA:99824
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroidism, Decreased skull ossification, Calvar...	OMIM:244460
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Elevated circulating C-reactive...	OMIM:612852
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Wt Limb-Blood Syndrome	Pancytopenia, Sensorineural hearing impairment, Radioulnar synostosis, Joint contracture of the 5...	OMIM:194350
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Splenomegaly, Thrombocyt...	ORPHA:77261
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty	ORPHA:314802
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue hist...	OMIM:230600
Metatropic Dysplasia	Low-set, posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Abnormal enchondral ...	ORPHA:2635
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, Thoracic hypertrichosis, Hypothyroidism, Simple ear, Joint laxity, Hepato...	OMIM:618268
Barth Syndrome	Failure to thrive, Fair hair, Cyclic neutropenia, Hypochromic microcytic anemia, 3-Methylglutacon...	OMIM:302060
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma,...	OMIM:613490
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Oliver-Mcfarlane Syndrome	Alopecia, Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Long eye...	OMIM:275400
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Hepatomegaly, Alopecia, Sparse scalp hair, Impaired glucose tolerance, Jo...	OMIM:248370
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype...	ORPHA:156
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot...	OMIM:261680
Takenouchi-Kosaki Syndrome	Posteriorly rotated ears, Hypospadias, Increased mean platelet volume, Highly arched eyebrow, Spa...	OMIM:616737
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Weismann-Netter Syndrome	Abnormality of the thyroid gland, Abnormal cortical bone morphology, Anemia	ORPHA:3344
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Hyperlipidemia, Joint hemorrhage, Hyperuricemia	ORPHA:35909
Ataxia-Telangiectasia	Elevated hepatic transaminase, Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Decrease...	ORPHA:100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis, Hyperostosis, Hypoalbuminemia, Periostosis	OMIM:614441
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Hepatomegaly, Sensorineural hearing impairment, Iron deficiency anemia, Low-set ear...	OMIM:607906
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin...	ORPHA:542323
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Mitochondrial Complex I Deficiency, Nuclear Type 5	Apnea, Respiratory insufficiency	OMIM:618226
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Smith-Kingsmore Syndrome	Curly hair, Hypoglycemia, Large for gestational age, Thrombocytopenia, Decreased circulating IgA ...	OMIM:616638
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas...	OMIM:615244
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Abnormal pinna morphology, Small for gestational age, Hypospadia...	OMIM:607143
Rothmund-Thomson Syndrome	Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Skin rash, Aplastic anemia, Small fo...	ORPHA:2909
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test...	ORPHA:94089
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru...	OMIM:211600
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malformation, Bronch...	ORPHA:33110
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritus, Splenomegaly...	OMIM:607626
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutrop...	OMIM:615387
Joubert Syndrome 7	Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:611560
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Pallor, Nephrotic range ...	ORPHA:544482
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho...	OMIM:615923
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp...	ORPHA:509
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea	ORPHA:320385
Japanese Encephalitis	Hyponatremia, Neutrophilia, Stiff neck, Elbow flexion contracture, Increased circulating IgM leve...	ORPHA:79139
Erythrocytosis, Familial, 2	Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele...	OMIM:263400
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosino...	ORPHA:486
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce...	OMIM:616834
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia, Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Sinusitis, Diabetes mellitus, Female hypogona...	OMIM:208900
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patchy osteoscle...	OMIM:241410
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis	OMIM:261650
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Antinuclear antibody positivity, Colitis, Lupus an...	OMIM:616744
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Petechiae, Chi...	OMIM:225750
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Sensorineural ...	OMIM:249270
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Pruritus, Erythema, Cholelithiasis, Hepatic failure	OMIM:177000
Immunodeficiency 31C	Osteopenia, Hepatomegaly, Lymphopenia, Osteomyelitis, Impaired lymphocyte transformation with phy...	OMIM:614162
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Nephrocalcinosis, Early onset of sexu...	OMIM:194050
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea	OMIM:616896
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea	ORPHA:71277
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo...	OMIM:240300
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi...	OMIM:251290
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Catastrophic Antiphospholipid Syndrome	Antiphospholipid antibody positivity, Abnormality of the kidney, Anticardiolipin IgG antibody pos...	ORPHA:464343
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea	OMIM:615031
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia, Hearing impairment	OMIM:223500
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear...	ORPHA:536
Lethal Ataxia With Deafness And Optic Atrophy	Abnormal erythrocyte enzyme level, Congenital sensorineural hearing impairment, Hypouricemia, Pro...	ORPHA:1187
Flynn-Aird Syndrome	Alopecia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal...	ORPHA:2047
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani...	OMIM:266150
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ...	ORPHA:95512
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Hyperlipidemia, Jaundice, Lym...	ORPHA:79477
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Premature graying of hair, Nail dystrophy, Type I diabet...	OMIM:620365
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:617049
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Hyperekplexia 3	Respiratory arrest, Apnea	OMIM:614618
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Hyp...	OMIM:214500
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Hypogl...	ORPHA:79282
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Nephropathy, Uveiti...	ORPHA:575
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Elevated circulating alkaline phosphatase c...	OMIM:239100
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Apnea, Hyperventilation	OMIM:229700
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis, Hearing impairment	OMIM:606263
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Failure to thrive, Extrahepatic portal hypertension, Low...	ORPHA:2929
Congenital Left Ventricular Aneurysm	Apnea	ORPHA:1055
Leukodystrophy, Hypomyelinating, 4	Apnea	OMIM:612233
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell...	OMIM:620044
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	High anterior hairline, Prominent antitragus, Low alkaline phosphatase, Sparse lateral eyebrow	OMIM:618879
Calciphylaxis	Stage 5 chronic kidney disease, Abnormality of skin physiology, Skin ulcer, Hyperphosphatemia, Se...	ORPHA:280062
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	OMIM:614921
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Hypercalciuria, Reduced bone mineral density, N...	ORPHA:428
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea	OMIM:619797
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Hypokalemia, Hypocalcemia, Nail dysplasia, Hypomagnesemia, Nail dystrophy, An...	OMIM:175500
Gracile Bone Dysplasia	Asplenia, Micropenis, Decreased skull ossification, Ascites, Hypocalcemia, Hypoplastic spleen, Fa...	OMIM:602361
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy	OMIM:610006
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormal pinna morphology, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized a...	OMIM:231680
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Nemaline Myopathy 2	Respiratory insufficiency due to muscle weakness, Apnea	OMIM:256030
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Failure to thrive, Renal insufficiency, Proteinuria, D...	OMIM:277400
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Anti-thyroid peroxidase antibody positivity, Elevated circulating thyroid-stimulating...	OMIM:610199
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone c...	OMIM:131100
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Sparse eyebrow, Hypocholesterolemia, Micropenis	OMIM:618810
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife...	ORPHA:99867
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe...	OMIM:618261
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Synophrys, Protruding ear, Decreased circulating total IgM, Decreased circulating IgG level, Hirs...	OMIM:300861
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Vesicoureteral reflux, Horseshoe kidney, Increased m...	OMIM:612562
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Xanthine neph...	OMIM:252150
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod...	ORPHA:48104
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Endocardial Fibroelastosis	Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypoglycemia, Abnormal helix morphology, ...	ORPHA:2022
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul...	OMIM:212138
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Central ...	ORPHA:514
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t...	OMIM:300310
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit...	ORPHA:90368
Hereditary Folate Malabsorption	Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Cheilitis, ...	ORPHA:90045
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, D...	OMIM:605309
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato...	OMIM:611126
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te...	OMIM:262700
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Alopecia totalis, ...	OMIM:618775
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the s...	ORPHA:85212
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Flexion contracture, Osteoporosis, Nephropathy, Ascites, Hearing impa...	ORPHA:87876
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:608068
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated...	OMIM:201475
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Sparse eyelashes, Persistence of hemoglobin F, Microtia, Increased mean corpus...	OMIM:300946
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic acid...	ORPHA:79284
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi...	ORPHA:35878
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis	ORPHA:2512
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm...	ORPHA:1572
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton...	ORPHA:64744
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Stiff neck, Maculopapular exanthema, Skin ras...	ORPHA:319213
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Apnea	OMIM:614498
Laron Syndrome	Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal o...	ORPHA:633
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Bleph...	ORPHA:158029
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern...	ORPHA:35173
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Microscopic hematuria, Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease,...	ORPHA:567546
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Copper accumulation in liver, Aminoaciduria, Elevated hepatic iron concentratio...	OMIM:614946
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria	ORPHA:33574
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Bloom Syndrome	Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ...	OMIM:277410
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Sensorineural hearing impairment, Hyperammonemia, 3-Methylglutaconic aciduria, Hype...	OMIM:614739
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Netherton Syndrome	Decreased circulating IgG level, Sparse scalp hair, Brittle hair, Recurrent skin infections, Alle...	OMIM:256500
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Alopecia totalis	ORPHA:1014
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant sk...	ORPHA:904
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Joint c...	OMIM:251300
22Q11.2 Deletion Syndrome	Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Conductive hearing impairment, ...	ORPHA:567
Alpha-Mannosidosis	Hepatomegaly, Craniofacial hyperostosis, Splenomegaly, Macrotia, Arthritis, Type II diabetes mell...	ORPHA:61
Sengers Syndrome	Osteopenia, 3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of...	ORPHA:79086
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Leukocyto...	ORPHA:3260
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Conjugated hyperb...	OMIM:613404
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Long eyelashes	ORPHA:48431
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to...	ORPHA:79444
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, Pallor, Thrombocytopenia	ORPHA:49827
Takayasu Arteritis	Increased inflammatory response, Skin ulcer, Weight loss, Arthritis, Inflammatory abnormality of ...	ORPHA:3287
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Birk-Aharoni Syndrome	Duplicated collecting system, Macrocytic anemia, Micropenis, Failure to thrive, Thick eyebrow, He...	OMIM:620071
Pseudo-Torch Syndrome 3	Death in infancy, Apnea, Respiratory insufficiency	OMIM:618886
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypoglycemia, Cardiomegaly, Hyperammonemia...	ORPHA:391428
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe...	ORPHA:169105
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Aplasia/Hypoplasia of the earl...	ORPHA:3409
Aredyld Syndrome	Low-set, posteriorly rotated ears, Hepatomegaly, Craniofacial hyperostosis, Cachexia, Splenomegal...	ORPHA:1133
Peroxisome Biogenesis Disorder 11A (Zellweger)	Apnea	OMIM:614883
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Phosphoglycerate Dehydrogenase Deficiency	Reduced 3-phosphoglycerate dehydrogenase activity, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hype...	OMIM:618120
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Abnormality of the liver, ...	ORPHA:228119
Myotonia, Potassium-Aggravated	Stridor, Apneic episodes in infancy	OMIM:608390
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures	ORPHA:93324
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Stage 5 chronic kid...	OMIM:619468
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutane...	OMIM:269200
Hypoadrenocorticism, Familial	Apnea	OMIM:240200
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Keratoderma Hereditarium Mutilans	Alopecia, Hypogonadotropic hypogonadism, Sensorineural hearing impairment, Osteolysis, Abnormal t...	ORPHA:494
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine l...	OMIM:253270
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Hyperlipidemia, Flexion contracture, Insulin-resistant diabetes mellitus,...	OMIM:608612
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Pontocerebellar Hypoplasia, Type 16	Apnea	OMIM:619527
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Pruritus, Increased circulating IgE level, Onycholysis, Scaling skin,...	OMIM:270300
Cranioectodermal Dysplasia 1	Protruding ear, Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Sparse hair, Joint ...	OMIM:218330
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Alopecia, Ketonuria, Hypoglycemia, Seborrheic dermatitis, Hyperglycinuria, ...	OMIM:210210
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Renal cell carcinom...	OMIM:193300
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Abnormality ...	ORPHA:2348
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal...	ORPHA:449432
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Illum Syndrome	Apnea	OMIM:208155
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Myasthenic Syndrome, Congenital, 20, Presynaptic	Stridor, Hypoventilation, Apnea	OMIM:617143
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp...	ORPHA:2089
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Renal insufficiency, Glomerulopathy, Skin rash, Proteinuria, Autoimmu...	ORPHA:36412
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu...	OMIM:615605
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocy...	OMIM:124900
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo...	ORPHA:231
Menkes Disease	Joint laxity, Alopecia, Decreased circulating ceruloplasmin concentration, Brittle hair, Osteopor...	OMIM:309400
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Amin...	OMIM:619055
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Eczema, Elbow contracture, Allergic rhinitis, Annul...	OMIM:618162
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Rothmund-Thomson Syndrome Type 1	Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestation...	ORPHA:221008
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones	ORPHA:53697
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Hypoplasia...	ORPHA:66661
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Conge...	ORPHA:93325
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cachexia, Joint stiffnes...	ORPHA:3242
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Hepatoerythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Facial hypertrichosis, Abnorma...	ORPHA:95159
Kaposiform Lymphangiomatosis	Pancreatic cysts, Fractures of the long bones, Splenomegaly, Thrombocytopenia, Lymphangioma, Oste...	ORPHA:464329
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Autoimmunity, Splenomegaly, Increased circulating ferritin co...	OMIM:618398
Thyrocerebrorenal Syndrome	Renal insufficiency, Sensorineural hearing impairment, Euthyroid goiter, Nephritis, Thrombocytopenia	ORPHA:3327
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis,...	ORPHA:445038
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Synophrys, Failure to thrive, Hypercalcemia, Urinary incontinence	ORPHA:476126
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Abnormality of the kidney, Keratitis, Increase...	ORPHA:1163
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Ectopic kidney, Sparse eyebrow, Abnormal ...	ORPHA:634
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea	ORPHA:137754
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula...	ORPHA:449427
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia	OMIM:193670
Adams-Oliver Syndrome	Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Leukope...	ORPHA:974
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascite...	OMIM:608013
Opsismodysplasia	Posteriorly rotated ears, Low-set ears, Hypophosphatemia	OMIM:258480
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Cardiomegaly, Hyperammonemia, Ascites, Hyperalaninemia, ...	OMIM:614702
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc...	OMIM:615751
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Hypospadias, Renal agenesis, Sensorineural hearing impairment, Reduced ...	OMIM:301040
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Pterygium of na...	OMIM:224230
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Atopic dermatitis, Thrombocyt...	OMIM:618624
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Fail...	OMIM:619151
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Hypochromic anemia	OMIM:606893
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia, Hear...	OMIM:616435
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:620138
Developmental And Epileptic Encephalopathy 99	Central apnea	OMIM:619606
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Diabetes mellitus, Acne, Adrenal hyperplasia, Osteoporosis, Increased body ...	OMIM:615830
Mgat2-Cdg	Osteopenia, Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemag...	ORPHA:79329
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet...	OMIM:262190
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cystic ang...	OMIM:269700
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
D-2-Hydroxyglutaric Aciduria 1	Apnea, Inspiratory stridor	OMIM:600721
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl...	OMIM:210200
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Camptodactyly of finger, Protruding ear, Fingernail dysplasia, Sparse hair, Onychogrypo...	ORPHA:2251
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Erythema, Abnormal immunog...	ORPHA:90159
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea...	ORPHA:85414
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi...	ORPHA:79474
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Large for gestational age, Sen...	OMIM:619075
Rothmund-Thomson Syndrome Type 2	Osteopenia, Calcinosis, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestation...	ORPHA:221016
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Joint stiffness, Abnormal hair morphology, Osteolysis, Skin ulcer	ORPHA:2028
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Adr...	ORPHA:75233
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Synophrys, Heparan sulfate excretion i...	OMIM:252920
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Diabetes mellitus, Small for gestational age, Hypoglycemia, Sensorineural hearing i...	ORPHA:391408
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Digeorge Syndrome	Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t...	OMIM:188400
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet...	OMIM:246200
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal...	ORPHA:79644
Cranio-Osteoarthropathy	Eczema, Joint stiffness, Osteoarthritis, Arthritis, Abnormal cortical bone morphology	ORPHA:1525
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical...	ORPHA:2686
Hyperekplexia 1	Aspiration, Apnea	OMIM:149400
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration	ORPHA:3095
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Abnormal glucose homeostasis,...	ORPHA:391673
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Myositis, Paget disease of bone, Elevate...	OMIM:615422
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Acral ulceration, Alopec...	ORPHA:90291
Sulfite Oxidase Deficiency, Isolated	Sulfocysteinuria, Eczema, Elevated circulating creatine kinase concentration, Increased urinary s...	OMIM:272300
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas...	OMIM:231670
Developmental And Epileptic Encephalopathy 90	Apneic episodes in infancy	OMIM:301058
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy...	OMIM:615453
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Developmental And Epileptic Encephalopathy 101	Apnea	OMIM:619814
Hajdu-Cheney Syndrome	Osteopenia, Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Decreased skull ossific...	ORPHA:955
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice...	ORPHA:549
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Hypoparathyroidism, Hypoplasia of penis, Patchy osteosclerosis...	ORPHA:2323
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg...	OMIM:222300
Myopathy With Extrapyramidal Signs	Joint laxity, Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, El...	OMIM:615673
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema, Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cell...	OMIM:614878
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Protruding ear, Decreased body weight, Neonatal hypoglyc...	ORPHA:231140
Sotos Syndrome	Ureteral duplication, Neonatal hypoglycemia, Flexion contracture, Conductive hearing impairment, ...	ORPHA:821
48,Xxyy Syndrome	Asthma, Apnea	ORPHA:10
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Flexion contracture, Macrotia, Spars...	ORPHA:2850
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Spleno...	OMIM:602347
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pituitary grow...	ORPHA:730
Xq12-Q13.3 Duplication Syndrome	Decreased serum insulin-like growth factor 1, Eczema, Elevated circulating creatine kinase concen...	ORPHA:314389
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Mandibuloacral Dysplasia	Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin-resistant di...	ORPHA:2457
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Stoma...	OMIM:246400
Degcags Syndrome	Osteopenia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of ha...	OMIM:619488
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Absent gallbladder, Posteriorly rotated ears, Hypospadia...	ORPHA:163979
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder	OMIM:607685
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Hypospadias, Increased mean platelet volume, Highly arched eye...	ORPHA:487796
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalem...	OMIM:617913
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microve...	OMIM:124000
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Gastrointestinal in...	ORPHA:79404
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Small n...	OMIM:614520
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Unilateral renal agenesis, Radioulnar synostosis, Bone marrow hy...	OMIM:614900
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia, Sensorineural hearing impairment	OMIM:300438
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Shashi-Pena Syndrome	Posteriorly rotated ears, Hypoglycemia, Highly arched eyebrow, Unilateral renal agenesis, Synophr...	OMIM:617190
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Pruritus, Elevat...	OMIM:605479
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ...	OMIM:614736
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Phenylketonuria	Maternal hyperphenylalaninemia, Reduced phenylalanine hydroxylase level, Elevated urinary phenylp...	OMIM:261600
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Hypoalbuminemia, Low-set ears, Anemia	ORPHA:79076
Acrodysostosis 1 With Or Without Hormone Resistance	Small for gestational age, Unilateral renal agenesis, Neonatal epiphyseal stippling, Elevated cir...	OMIM:101800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Paget disease of bone, Elevated alkaline phosphatase of bone origin, Elevated circulating creatin...	OMIM:167320
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Chronic o...	ORPHA:169090
Estrogen Resistance Syndrome	Osteopenia, Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non...	ORPHA:785
Pontocerebellar Hypoplasia Type 2	Apnea	ORPHA:2524
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	ORPHA:95619
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Dyskeratosis Congenita, Digenic	Failure to thrive, Alopecia, Sparse eyelashes, Decreased circulating total IgM, Nail dystrophy, D...	OMIM:620040
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Kera...	ORPHA:449563
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cutan...	ORPHA:96253
Chilblain Lupus 1	Antinuclear antibody positivity, Abnormality of the nail, Chilblains, Skin ulcer	OMIM:610448
Oculodentodigital Dysplasia	Curly hair, Neurogenic bladder, Brittle hair, Abnormal fingernail morphology, Camptodactyly of fi...	ORPHA:2710
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Abnormal cortical bone morphology, Limitation of joint mobilit...	ORPHA:1486
Xq28 (MECP2) duplication	Failure to thrive, Macrotia, Functional abnormality of the bladder, Decreased circulating IgA level	DECIPHER:45
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent fractures,...	OMIM:606056
Joubert Syndrome 3	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608629
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Bernard-Soulier Syndrome	Partially duplicated kidney, Impaired ristocetin-induced platelet aggregation, Decreased platelet...	ORPHA:274
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Anemia, Excessive wrinkled skin, Premature gray...	ORPHA:3322
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Mediasti...	ORPHA:3452
Dyskeratosis Congenita, X-Linked	Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Conjunctivitis, Split nai...	OMIM:305000
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Diabetes insipidus, Sensorineural hearing impairment, Elevated amniotic fluid alpha-fetoprotein, ...	ORPHA:423479
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Eczema, Congenital onychodystr...	ORPHA:2890
Poikiloderma With Neutropenia	Joint laxity, Skin rash, Elevated circulating creatine kinase concentration, Joint stiffness, Spa...	OMIM:604173
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopat...	ORPHA:56425
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Pheochromocytoma	Hypercalcemia	OMIM:171300
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Hyperventilation	OMIM:617903
Myotonia Fluctuans	Stridor, Apnea	ORPHA:99734
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono...	OMIM:616871
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Excessive wrinkl...	ORPHA:3051
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Coars...	OMIM:252900
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Snakebite Envenomation	Hyponatremia, Erythema, Ecchymosis, Hypopituitarism, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Acute Promyelocytic Leukemia	Pancytopenia, Petechiae, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Leukopenia...	ORPHA:520
Giant Cell Arteritis	Pericarditis, Alopecia, Renal insufficiency, Abnormality of thrombocytes, Joint stiffness, Medias...	ORPHA:397
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Increased urinary gly...	OMIM:307030
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Rabson-Mendenhall Syndrome	Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Nephrocal...	ORPHA:769
Molybdenum Cofactor Deficiency, Complementation Group C	Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Increased urinary tauri...	OMIM:615501
Moynahan Syndrome	Alopecia, Cachexia, Sensorineural hearing impairment, Hypogonadism, Sparse hair	ORPHA:2574
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia...	OMIM:612561
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, Low-set ears, Hyperechogenic pancreas,...	OMIM:617941
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem...	OMIM:616113
Diamond-Blackfan Anemia	Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopenia, Pallor, Neutropenia,...	ORPHA:124
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Respiratory insufficiency	OMIM:614462
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Ketotic hypoglycemia, De...	ORPHA:79159
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo...	OMIM:300539
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hyp...	ORPHA:746
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	OMIM:616878
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Nephrocalcinosis, Neutropenia, Joint contracture, Failure to thrive, Hy...	OMIM:618005
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur...	OMIM:255125
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Lim...	ORPHA:90153
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Hyper...	OMIM:252930
Fibrodysplasia Ossificans Progressiva	Progressive cervical vertebral spine fusion, Alopecia, Ectopic ossification in tendon tissue, Sen...	OMIM:135100
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Abnormal circulating enzym...	ORPHA:565612
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc...	ORPHA:480864
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin...	OMIM:606631
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Adult-Onset Nemaline Myopathy	Flexion contracture, Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Hypoplastic toenails, Hypoplastic fifth fingernail, Precocious puberty, Ab...	OMIM:619356
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cystic ang...	OMIM:608594
Sneddon Syndrome	Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia	OMIM:182410
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Premature gray...	OMIM:612199
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia	OMIM:601495
Pancreatic And Cerebellar Agenesis	Failure to thrive, Diabetes mellitus, Abnormal pinna morphology, Hypoglycemia, Joint stiffness, F...	OMIM:609069
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency	OMIM:618222
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia	OMIM:615026
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bo...	OMIM:618188
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F...	OMIM:619503
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation	OMIM:209880
Tufted Angioma	Purpura, Petechiae, Thrombocytopenia, Anemia, Hypertrichosis	ORPHA:1063
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Flexion contracture, Recurrent pneumonia, Leukopenia, 3-Methylglutaconic a...	OMIM:616271
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Decreased circulating cortisol level, Acne, Premature pubarche, Premature thelarche, Re...	ORPHA:90795
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Petechiae, Macrothrombocytopenia, Absence of alp...	OMIM:187900
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Increased circulating IgE level, Long eyelashes, Failure to thrive	OMIM:616069
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Hypothyroidism, Low anterior ha...	OMIM:606593
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ...	ORPHA:668
Cartilage-Hair Hypoplasia	Joint laxity, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair...	OMIM:250250
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Chro...	OMIM:209920
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Impaired T cell function, Splenomega...	ORPHA:30
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Joint stiffness, Absent eyelashes, Sparse eyebrow, Decreased body weigh...	ORPHA:2985
Roifman Syndrome	Hip contracture, Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Prominent...	OMIM:616651
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox...	OMIM:201450
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Porphyria Cutanea Tarda, Type I	Porphyrinuria, Hepatic fibrosis, Eczema, Hypertrichosis	OMIM:176090
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology...	ORPHA:2575
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt...	ORPHA:90036
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea	OMIM:314580
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing impairment, Limitat...	ORPHA:93476
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis, Nephrocalcinosis, Elevated circulating alkaline phosphatase ...	OMIM:616833
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Posteriorly rotated ears, Camptodactyly, Sparse hair, M...	OMIM:619980
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite...	OMIM:252160
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Pathologic fracture, A...	OMIM:230800
Recon Progeroid Syndrome	Joint laxity, Attached earlobe, Thrombocytopenia, Hyperconvex thumb nails, Hirsutism, Absent lowe...	OMIM:620370
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Abnormal renal corticomedullary di...	OMIM:617397
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Osteolysis involvin...	ORPHA:464321
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, H...	ORPHA:3008
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem...	ORPHA:168558
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Craniosynostosis, Limited elbow movement, Decrease...	ORPHA:508533
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Severe ...	ORPHA:83617
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca...	OMIM:616260
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Nail dystrophy, Testicular atrophy, Thrombo...	OMIM:613987
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Abnormality of neutrophils, White hair, Reduced bone mineral de...	ORPHA:2720
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Elevated circulating alk...	OMIM:613312
Melnick-Needles Syndrome	Craniofacial hyperostosis, Osteolytic defects of the phalanges of the hand, Joint hyperflexibilit...	ORPHA:2484
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Sensorineural hearing impairment, Radioulnar synostosis, Neutropenia, Congenita...	OMIM:616738
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis	ORPHA:86884
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Sensorineural hearing impairment, Renal hypoplasia, Fine hair, Recurre...	OMIM:616817
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Dry skin, Hyperphosph...	ORPHA:466650
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrauterine growth retardation, Apnea, Death in childhood	OMIM:214110
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea	OMIM:612949
Aplasia Cutis Congenita	Abnormality of bone mineral density, Skin ulcer	ORPHA:1114
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Macs Syndrome	Joint laxity, Alopecia, Hypergonadotropic hypogonadism, Redundant skin, Sparse eyebrow, Urethral ...	OMIM:613075
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Blau Syndrome	Abnormality of the liver, Posterior uveitis, Nephropathy, Retrobulbar optic neuritis, Skin ulcer,...	ORPHA:90340
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia,...	ORPHA:90790
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Obesity, Cholesta...	OMIM:615630
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea	OMIM:300055
Timothy Syndrome	Hypoglycemia, Pneumonia, Cardiomegaly, Hypocalcemia, Hypothyroidism	OMIM:601005
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Neonata...	ORPHA:90791
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent...	OMIM:248600
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Small for gestational age, Anemic pallor, Renal agene...	OMIM:227645
Familial Benign Copper Deficiency	Anemia, Early balding, Decreased circulating copper concentration, Acne	ORPHA:1551
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Werner Syndrome	Sparse scalp hair, Increased bone mineral density, Renal neoplasm, Joint stiffness, Abnormal hair...	ORPHA:902
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ...	ORPHA:17
Gaucher Disease, Type Ii	Death in infancy, Apnea, Stridor, Cough, Recurrent aspiration pneumonia	OMIM:230900
Dubowitz Syndrome	Abnormality of neutrophils, Hypoplastic toenails, Low anterior hairline, Protruding ear, Low-set,...	ORPHA:235
Cortisone Reductase Deficiency 1	Alopecia, Acne, Precocious puberty, Obesity, Hirsutism	OMIM:604931
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter	ORPHA:83601
D-Glyceric Aciduria	Hypoglycemia, Sensorineural hearing impairment, Reduced hepatic D-glycerate kinase activity, Nonk...	OMIM:220120
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Hypospadias, Hypoglycemia, Splen...	OMIM:252010
Say-Barber-Miller Syndrome	Low-set, posteriorly rotated ears, Decreased circulating IgG level, Eczema, Craniosynostosis, Hig...	ORPHA:3132
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoimmune thromboc...	ORPHA:1855
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Reynolds Syndrome	Hepatomegaly, Skin rash, Pruritus, Jaundice, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, C...	ORPHA:779
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Sensorineural hearing impairment, Increased circulating IgE level	OMIM:221700
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Splenomegaly, Primary adr...	OMIM:261515
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Small for gestational age, Anemic pallor, Renal dupli...	OMIM:227646
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Hepatoblastoma, Low-set, posteriorly rotated ears, Ver...	ORPHA:373
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Acne, Biliary tract abnormality, Obesity, Type II diabetes mel...	ORPHA:3191
Vici Syndrome	Decreased circulating IgG level, Failure to thrive, Hypopigmentation of hair, Left ventricular hy...	OMIM:242840
Incontinentia Pigmenti	Alopecia, Skin rash, Camptodactyly of finger, Eosinophilia, Abnormal fingernail morphology, Kerat...	ORPHA:464
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
Lathosterolosis	Hepatomegaly, Failure to thrive, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytos...	ORPHA:46059
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Renal insuffic...	ORPHA:727
Leprechaunism	Protruding ear, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglyc...	ORPHA:508
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, D...	ORPHA:280365
Thyrocerebroretinal Syndrome	Sensorineural hearing impairment, Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Failure to thrive in infancy, Proteinuria, ...	ORPHA:2162
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis	ORPHA:529665
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Uplifted earlobe, Large for gestational age, Sparse hair, Conductive hearing impairment, Hepatome...	OMIM:280000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating free fatt...	OMIM:610768
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome...	ORPHA:75565
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Osteolysis, O...	ORPHA:90154
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Iridoc...	OMIM:181000
Orthostatic Hypotension 2	Hypoglycemia, Anemia, Decreased glomerular filtration rate	OMIM:618182
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Macrocytic anemia, Posteriorly rotated ears, Sparse eyebrow, Sensorineu...	OMIM:606164
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Ridged nail, Multiple joint contractures, Brittl...	ORPHA:33364
Joubert Syndrome	Apnea, Episodic tachypnea, Abnormal pattern of respiration	ORPHA:475
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth...	OMIM:614328
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Onycholysis	ORPHA:525
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort...	OMIM:120330
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei	OMIM:615578
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Vesicouretera...	OMIM:603467
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis...	OMIM:301072
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Nail dystrophy	OMIM:616487
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Failure to thrive, Diabetes mellitus, Foot joint contracture, Achilles tendon contr...	ORPHA:456312
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involvin...	ORPHA:88630
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Camptodactyly of finger, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin	OMIM:212360
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, E...	ORPHA:767
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hip contracture, Hepatomegaly, Bilateral fetal pyelectasis, Seborrh...	OMIM:300868
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia, Fine hair, Long eyelashes, High anterior hairline	ORPHA:231137
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Brittle hair, Hepatomegaly, Alopecia, Failure to thrive	ORPHA:50812
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hy...	ORPHA:90062
Rhizomelic Chondrodysplasia Punctata	Alopecia, Limitation of joint mobility, Epiphyseal stippling, Dry skin, Sparse body hair	ORPHA:177
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Kcnq2-Related Epileptic Encephalopathy	Apnea	ORPHA:439218
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros...	ORPHA:85188
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficien...	ORPHA:79408
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy	ORPHA:89843
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Large fleshy ears, Alopecia, Flexion contracture	OMIM:203550
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Diabetes mellitus, Chilblai...	ORPHA:51
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Elevated circula...	ORPHA:330001
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase...	OMIM:243800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, Panniculitis, B lymphocytopeni...	ORPHA:508542
Deeah Syndrome	Hepatomegaly, Decreased hemoglobin concentration, Decreased response to growth hormone stimulatio...	OMIM:619004
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Protruding ear, Increased mean corpuscular volume, ...	ORPHA:261250
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Diabetes mellitus, Sensorineural hearing impairment, Hypogonadism, Hypothyroidism	ORPHA:98673
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Pallor, Increased total bilirubin	ORPHA:90037
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Alopecia, Hyperphosphaturia, Recurrent fractures, Precocious puberty, Horseshoe kidne...	OMIM:163200
Satoyoshi Syndrome	Alopecia, Alopecia universalis, Mildly elevated creatine kinase, Osteolytic defects of the phalan...	OMIM:600705
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
46,Xy Sex Reversal 4	Renal dysplasia, Distal symphalangism, Hypergonadotropic hypogonadism, Sensorineural hearing impa...	OMIM:154230
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia...	OMIM:612394
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Skin ulcer, Dystrophic fingernails, Abn...	ORPHA:1657
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Atopic dermatitis, Nail pits, ...	ORPHA:79153
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet...	OMIM:300367
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased cir...	ORPHA:100075
Rett Syndrome	Apnea, Intermittent hyperventilation	OMIM:312750
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Sensorineural hearing impairment, Failure to thrive, Thrombocytopenia	OMIM:616577
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Brittle hair, Small for gestational age, Trichoschisis, Flexion ...	OMIM:601675
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Sensorineural hearing im...	ORPHA:2609
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Microtia	OMIM:618158
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic...	OMIM:609981
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Skin rash, Abnormal fingernail morphology, Pruritus, Erythema...	ORPHA:1334
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Long eyelashes, ...	OMIM:618476
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Hypoglycemia, Hypoplastic toenails, Histidinuria, Se...	ORPHA:2158
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Granulocytopenia, Sca...	ORPHA:454831
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:36426
Diamond-Blackfan Anemia 5	Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Low-set ears	OMIM:612528
Fatal Familial Insomnia	Apnea	OMIM:600072
Sotos Syndrome	Joint laxity, Posteriorly rotated ears, Abnormality of the kidney, Sparse eyebrow, Increased body...	OMIM:117550
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Reduced renal corticomedulla...	OMIM:618541
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Crandall Syndrome	Alopecia, Brittle hair, Hypoplasia of penis, Sensorineural hearing impairment, Fine hair, Hypogon...	ORPHA:202
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Vacuolated lymphocytes, Low anterio...	OMIM:248500
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Multiple joint contractures, Posteriorly rotated ears, Highly arched ...	OMIM:618143
Silver-Russell Syndrome 1	Urethral valve, Small for gestational age, Hypospadias, Decreased response to growth hormone stim...	OMIM:180860
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Gastrointestinal ...	ORPHA:99413
Diamond-Blackfan Anemia 10	Macrocytic anemia, Posteriorly rotated ears, Renal duplication, Ectopic kidney, Reticulocytopenia...	OMIM:613309
Mosaic Monosomy X	Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Gastrointestinal ...	ORPHA:99228
Monosomy X	Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Gastrointestinal ...	ORPHA:99226
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Eczema, Increased circulating IgE level, Thyroiditi...	OMIM:618985
Turner Syndrome	Osteopenia, Ectopic kidney, Hypoplastic toenails, Reduced bone mineral density, Gastrointestinal ...	ORPHA:881
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Erythema, ...	OMIM:614748
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Iridocyclitis, Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delay...	ORPHA:412057
Osteogenesis Imperfecta	Osteopenia, Mixed hearing impairment, Small for gestational age, Recurrent fractures, Fractures o...	ORPHA:666
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Thrombocytopenia, Microtia, Hypoplastic nipples, Low-set ears, Camp...	ORPHA:261323
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Posteriorly rotated ears, Hypoglycemia, Precocious puberty, Synophrys, Obesity, Hep...	OMIM:301066
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Ankylosis, Sensorineural hearing impairment, Erythema, ...	ORPHA:659
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Noonan Syndrome 4	Curly hair, Ureteral duplication, Posteriorly rotated ears, Large for gestational age, Sparse eye...	OMIM:610733
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Kaufman Oculocerebrofacial Syndrome	Abnormal pinna morphology, Sparse eyebrow, Low-set ears, Hypocholesterolemia, Sparse hair, Failur...	OMIM:244450
Subcorneal Pustular Dermatosis	Hyperthyroidism, Autoimmunity, Pruritus, Pustule, Erythema, Systemic lupus erythematosus, Increas...	ORPHA:48377
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Posteriorly rotated ears, Abnormal pinna morph...	OMIM:618580
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Stridor, Aspiration, Intrauterine growth retardation	OMIM:614653
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Low-s...	OMIM:608688
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Sensorineural hearing impairment, Pr...	OMIM:530000
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Interstitial pneumonitis, Petechiae, Purpura	OMIM:620296
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Small for gestational age, Anemic pallor, Renal agene...	OMIM:227650
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Anemic pallor, Renal agene...	OMIM:600901
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Recurrent skin infections, Thrombocytopenia	OMIM:614171
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Limited elbow movement, Joint stiffness, Sparse ey...	OMIM:614008
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea	ORPHA:2318
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Underfolded helix, Posteriorly rotated ears, Increased urinary type 1 collagen ...	ORPHA:93315
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp...	ORPHA:173
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo...	ORPHA:2260
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chroni...	ORPHA:90033
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Pancreatic Colipase Deficiency	Megaloblastic anemia, Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea	ORPHA:309108
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sensorineural hear...	ORPHA:2306
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Joubert Syndrome With Renal Defect	Apnea, Abnormal pattern of respiration	ORPHA:220497
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Elevated circulating alkaline ...	ORPHA:521219
Idiopathic Aplastic Anemia	Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Bone marrow hypocellular...	ORPHA:88
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Decrea...	OMIM:231530
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Decreased respons...	ORPHA:3464
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Sensorineural hearing impairment, Microtia, Hepatic steatosis	OMIM:275630
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contractu...	OMIM:259600
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Joint stiffness, Splenomegaly, Arthritis, Microtia, Chronic...	ORPHA:93
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Hypospadias, Large for gestational age, Neonatal hypoglycemia, Decreased circulating ...	ORPHA:457485
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Increased bone mineral density, Hypospadias, Redundant skin, Epispadia...	ORPHA:2658
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Elevated circulating alkaline pho...	OMIM:167250
Gomez-Lopez-Hernandez Syndrome	Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Cranio...	OMIM:601853
Orofaciodigital Syndrome Xvi	Apnea	OMIM:617563
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment	OMIM:619981
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Multicystic kidney dysplasia, Tarsal synos...	ORPHA:2750
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Recurrent fractures, Osteoporosis, Elevated circulating alk...	OMIM:126550
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Failure to thrive, Thrombocytopenia	OMIM:615597
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Renal insufficiency, Dysuria, Hypogonad...	ORPHA:35687
Monosomy 18P	Alopecia, Autoimmunity, Low posterior hairline, Protruding ear, Abnormal antihelix morphology, Ma...	ORPHA:1598
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Premature adrena...	ORPHA:90794
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Alopecia, Hypertriglyceridemia, Diabetes mellitus, Redundant skin, Keratoconjunctivit...	ORPHA:536532
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Stt3B-Cdg	Micropenis, Failure to thrive, Thrombocytopenia	ORPHA:370924
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pinna morphology, Sparse eyelashes, Sparse eyebrow, Elevated 8-dehydrocholesterol, Eleva...	OMIM:302960
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susceptibility to...	OMIM:146300
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Flexion contracture, Elbow flexion contracture, Prominent anti...	OMIM:618947
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic mucoc...	OMIM:116920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, R...	ORPHA:2237
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, White hair, Reduced bone mineral density, Agammaglobulinemia, Fine h...	ORPHA:935
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr...	OMIM:123550
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,...	OMIM:251260
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Heparan sulfate excretion in urine, Splenomega...	OMIM:309900
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic...	OMIM:618131
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Essential Thrombocythemia	Myelofibrosis, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology, Acute leu...	ORPHA:3318
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Craniosynostosis, Absent eyelashes, Abnormality of the endocrine system...	ORPHA:166035
Joubert Syndrome With Ocular Defect	Apnea, Abnormal pattern of respiration	ORPHA:220493
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea	OMIM:615157
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Frontal balding, Decreased circulating total ...	OMIM:602668
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, T...	OMIM:274000
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Nephroblastoma, Ascites, Thickened cortex of long bones	OMIM:253250
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Hypoglycemia, Tarsal synostosis, Recurrent fractures, Os...	ORPHA:565
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Primary adrenal insufficiency, Hypogonadism, Elevated circulating...	OMIM:300100
Hyperzincemia With Functional Zinc Depletion	Skin rash, Increased serum zinc, Osteoporosis, Hepatomegaly	OMIM:601979
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility, ...	ORPHA:1328
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Hyper...	ORPHA:713
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of t...	OMIM:619321
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Erythema, Skin ulcer	ORPHA:2337
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Thrombocytopenia, Sensorineural hearing impairment, Sacral hypertrichosis,...	ORPHA:457351
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Sensorineural hearing impairment...	ORPHA:2072
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Megaloblastic anemia, Abnormality of hair texture, Hyposerinemia, Hypogonadism, E...	ORPHA:79351
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Lymphadenopat...	ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema,...	OMIM:619183
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Underfolded helix, Small for gestational age, Sparse...	OMIM:268400
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c...	ORPHA:453533
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Synophrys, Widow's peak, Obesity, Protruding ear, Coarse ...	OMIM:620072
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia, Abnormality of the nail	ORPHA:621
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Fair hair, Petechiae, Eczema, Hypospadias, Atopic dermatitis, Dry skin, Premature g...	OMIM:620331
Relapsing Polychondritis	Uveitis, Conjunctivitis, Chondritis, Glomerulopathy, Alopecia, Hepatitis, Scleritis, Episcleritis...	ORPHA:728
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Pruritus, Portal vein thrombosis, Splenomegaly,...	ORPHA:729
Biotinidase Deficiency	Alopecia, Skin rash, Sensorineural hearing impairment, Hyperammonemia, Organic aciduria, Conjunct...	ORPHA:79241
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Mucolipidosis Ii Alpha/Beta	Osteopenia, Hepatomegaly, Brittle hair, Increased iduronate sulfatase level, Increased serum beta...	OMIM:252500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Posteriorly rotated ears, Hyperconvex nail, Highly arched eyebrow, Sensorineural hearing impairme...	OMIM:239300
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Keratoconjunctivitis si...	ORPHA:309031
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Nephrolithiasis, Joint hyperflexibilit...	ORPHA:2067
Hurler Syndrome	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Flexion contract...	OMIM:607014
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Acrogeria	Excessive wrinkled skin, Joint hyperflexibility, Skin ulcer, Fine hair	ORPHA:2500
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Acne, Elevated alkaline phosphatase of bone ...	OMIM:615363
Cranioectodermal Dysplasia 2	Cholangitis, Renal cyst, Sparse hair, Simple ear, Joint laxity, Hepatomegaly, Sparse eyebrow, Bil...	OMIM:613610
Oslam Syndrome	Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Autoimmunity, ...	ORPHA:3453
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Recurr...	ORPHA:84
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia	OMIM:222730
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Protruding ear, Microtia, Hypogonadism, Atresia of th...	ORPHA:2316
Fucosidosis	Hepatomegaly, Thick eyebrow, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocy...	OMIM:230000
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Cornelia De Lange Syndrome 1	Ectopic kidney, Synophrys, Renal cyst, Otitis media, Vesicoureteral reflux, Conductive hearing im...	OMIM:122470
Bresek Syndrome	Hypoplasia of the bladder, Alopecia, Renal hypoplasia, Protruding ear, Low-set ears, Vesicoureter...	ORPHA:85284
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Immunodeficiency 10	Nail dysplasia, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Intrahepat...	OMIM:619849
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Erythroderma, Failure to thrive, Abnormality of the nail, Hearing ...	ORPHA:79394
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Dystrophic fingernails, D...	ORPHA:1882
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Conjunctivitis, Nail dystrophy, Nail dysplasia, Anemia	OMIM:226600
Severe X-Linked Intellectual Disability, Gustavson Type	Apneic episodes in infancy	ORPHA:3078
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Autoimmunity, Flexion contracture, Osteolysis, Skin ulcer, Oliguria, Arthritis	ORPHA:220393
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadot...	ORPHA:2232
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Mal De Meleda	Inflammatory abnormality of the skin, Flexion contracture, Erythema, Superficial dermal perivascu...	ORPHA:87503
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Impaired platelet adhesion, Autoimmune t...	ORPHA:324636
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Posteriorly rotated ears, Hypospadias, Supernumerary nipple, Sensorineural hearing impa...	ORPHA:3224
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Hypertrichosis, Abnormal lymphatic vessel morpholog...	ORPHA:2330
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Limb joint contracture, Small for...	ORPHA:404454
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Pontocerebellar Hypoplasia, Type 7	Apnea	OMIM:614969
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Double Outlet Right Ventricle	Abnormality of cartilage of external ear, Hypocalcemia	ORPHA:3426
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, ...	ORPHA:1332
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Large earlobe, Elevated circulating alkaline phosphatase concentration	OMIM:615716
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Bathing Suit Ichthyosis	Alopecia, Multiple joint contractures, Palmoplantar scaling skin, Scaling skin, Nail dystrophy, E...	ORPHA:100976
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Reduced bone mineral density, Coarse h...	ORPHA:581
Kury-Isidor Syndrome	Alopecia, Low-set ears, Recurrent otitis media, Hydronephrosis, Hypertrichosis	OMIM:619762
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair, Hypogonadism, Low-set ears, Coronal craniosynostosis	ORPHA:228390
Erythema Elevatum Diutinum	Skin vesicle, Skin rash, Increased circulating antibody level	ORPHA:90000
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia	ORPHA:95428
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Sparse eyelashes, Cupped ear, Protruding ear, Microtia, Low-set ears, Cond...	OMIM:616367
Kabuki Syndrome 2	Joint laxity, Highly arched eyebrow, Neonatal hypoglycemia, Cupped ear, Horseshoe kidney, Protrud...	OMIM:300867
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Highly arched eyebrow, Long eyelashes, Decrease...	OMIM:619005
Focal Dermal Hypoplasia	Acute hepatic failure, Alopecia, Multicystic kidney dysplasia, Camptodactyly of finger, Hearing i...	ORPHA:2092
Short Syndrome	Alopecia, Diabetes mellitus, Sensorineural hearing impairment, Insulin resistance, Weight loss, E...	ORPHA:3163
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Erythema, Weight loss, Panniculitis, Inflammatory abnor...	ORPHA:33577
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea, Cardiorespiratory arrest	OMIM:608643
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Thick eyebrow, Hypoglycemia, Decreased response to growth hormone stimulation test, D...	OMIM:616007
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Apnea	OMIM:618056
Gm1-Gangliosidosis, Type I	Hepatomegaly, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Decreased beta-galactosidase...	OMIM:230500
Silver-Russell Syndrome Due To A Point Mutation	Hypospadias, Small for gestational age, Hypoglycemia, Microphallus, Low-set ears, Hypothyroidism,...	ORPHA:397590
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic...	ORPHA:100078
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Spleno...	OMIM:615947
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Asplenia, Limitation of joint mobi...	ORPHA:99776
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aciduria	OMIM:248360
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Pathologic fracture, Hearing impairment	ORPHA:36386
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Posteriorly rotated ears, Synophrys, Low-set ears, Polysplenia, Dilatation of ...	OMIM:614294
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea	OMIM:619580
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Protruding ear, Hypopla...	OMIM:230740
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Splenomegaly, Erythema, Nephrocalcinosis, Hyperostosis	ORPHA:53715
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,...	ORPHA:73224
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypoglycemia, Frontal balding, Preco...	ORPHA:786
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Elevated ci...	OMIM:610968
Blue Rubber Bleb Nevus	Pathologic fracture, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis, Generalized hirsutism, Skin ulcer	ORPHA:2218
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Abnormality of the ureter, Protruding ear, Dystrophic...	ORPHA:3253
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated circulating C-reactive...	ORPHA:79099
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Uveitis, Weig...	OMIM:608710
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Autoimmunity, Skin ulcer	ORPHA:220402
Viss Syndrome	Chronic gastritis, Generalized joint laxity, Increased circulating IgG level, Hypothyroidism, Joi...	OMIM:619472
Monosomy 18Q	Failure to thrive, Secondary growth hormone deficiency, Hypothyroidism, Sensorineural hearing imp...	ORPHA:1600
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Protruding ear, Small nail, Low-set ears	OMIM:614219
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Thyroid hypoplasia, Alopecia, Unilateral renal agenesis, Adrenal hypoplasia, Elevated 8-dehydroch...	OMIM:308050
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Pancytopenia, Alopecia, Phimosis, Urinary bladder infla...	ORPHA:99921
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc...	OMIM:105650
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormal pinna morphology, Abnormality of the anterior pituitary, Renal h...	ORPHA:75389
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Basilicata-Akhtar Syndrome	Abnormal pinna morphology, Precocious puberty, Low-set ears, Camptodactyly, Neonatal hypoglycemia...	OMIM:301032
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease	ORPHA:397715
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Nail bed telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Polycythem...	OMIM:600376
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Purpura, Aplastic anemia, Sens...	OMIM:605432
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Prelingu...	ORPHA:436174
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia, Neonatal hypoglycemia, Abnormal circulating enzyme concentration or activity, L...	ORPHA:572798
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnormality of the endocrin...	ORPHA:3385
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Abnormal penis morphology, Skin ulcer...	ORPHA:95455
Stuve-Wiedemann Syndrome 1	Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy	OMIM:601559
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Cupped ear, Persistence of hemoglobin F, Low-set ears, Overfolded helix, Joint hypermobility	OMIM:617101
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Eczema, Thrombocytopenia, Increased serum testosterone level	ORPHA:96181
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Renal insufficienc...	ORPHA:183
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Curly hair, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Bilateral sensorineural hearing impairment, Profound sensorineural hearin...	ORPHA:90647
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Small earlobe, Absent eyebrow, Alopecia, Hypospadi...	OMIM:264090
Caffey Disease	Joint hypermobility, Periosteal thickening of long tubular bones, Subperiosteal bone formation, C...	OMIM:114000
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s...	OMIM:615962
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Long eyelashes, Generalized osteoporosis, Jo...	OMIM:617952
Hermansky-Pudlak Syndrome 10	Apnea	OMIM:617050
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Craniometadiaphyseal Dysplasia	Osteopenia, Sclerosis of skull base, Elevated circulating alkaline phosphatase concentration, Low...	OMIM:269300
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating cortisol level, Conductive hearing impairment, Micropenis, Simple ear, Hypo...	OMIM:201750
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Respiratory insufficiency	OMIM:617239
Chime Syndrome	Abnormality of the kidney, Erythema, Osteolysis, Skin ulcer, Acute leukemia, Fine hair, Sparse ha...	ORPHA:3474
Listeriosis	Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctiv...	ORPHA:533
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Alopecia, Membranoproliferative glomerulone...	OMIM:137940
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Decreased serum insulin-like growth factor...	ORPHA:79323
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Abnormal pinna morphology, Recurrent fractures, Sparse e...	OMIM:309583
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair	OMIM:242300
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, Limitation of join...	ORPHA:93474
Orthostatic Hypotension 1	Joint hypermobility, Reduced circulating prolactin concentration, Neonatal hypoglycemia, Increase...	OMIM:223360
Glass Syndrome	Apnea	OMIM:612313
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Respiratory insufficiency	OMIM:617527
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Plaa-Associated Neurodevelopmental Disorder	Apnea, Respiratory insufficiency	ORPHA:521426
Immune Thrombocytopenia	Petechiae, Thrombocytopenia, Purpura	ORPHA:3002
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Recurrent fractures, Abnormality of hair texture, Sparse eyebrow, Uve...	ORPHA:2108
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Generalized joint laxity, Recurrent pneumonia, Nephrolithiasis, Decreas...	OMIM:613848
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Prelingual sensorineural he...	ORPHA:477
Frank-Ter Haar Syndrome	Osteopenia, Redundant neck skin, Acne, Osteoporosis, Protruding ear, Low-set ears, Camptodactyly,...	OMIM:249420
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Riddle Syndrome	Decreased circulating IgG level, Dry skin	OMIM:611943
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Marshall-Smith Syndrome	Apnea, Stridor, Aspiration pneumonia, Death in childhood, Pulmonary arterial hypertension, Recurr...	OMIM:602535
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Nail bed telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Polycythem...	OMIM:187300
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Highly arched eyebrow, Synophrys, Cupped ear, Decreased circulat...	OMIM:617062
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Pustule, Skin ulcer, Intrarenal abscess...	ORPHA:68
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Cough	ORPHA:579
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ...	ORPHA:548
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Hearing impairment, Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentratio...	OMIM:614749
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc...	ORPHA:73263
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Abnormal hair mo...	ORPHA:647
Fanconi Anemia, Complementation Group B	Aplastic anemia, Renal agenesis, Hypergonadotropic hypogonadism, Micropenis, Hypogonadism, Low-se...	OMIM:300514
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Endosteal Hyperostosis, Autosomal Dominant	Sensorineural hearing impairment, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavic...	OMIM:144750
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Limb joint contracture, Hypogonadotropic hypogonadism, Central adrenal insufficiency, S...	OMIM:612079
Mucopolysaccharidosis Type 7	Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Mucopolysacchariduria, Ascites	ORPHA:584
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Zinc Deficiency, Transient Neonatal	Alopecia, Decreased serum zinc, Eczema	OMIM:608118
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Alopecia, Joint stiffness, Abnormal antihelix morphology, Abno...	ORPHA:1005
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia	OMIM:277480
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Micropenis, Hypospadias, Erythroderma	OMIM:618840
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Hyperphosphatasia-Intellectual Disability Syndrome	Supernumerary nipple, Highly arched eyebrow, Cupped ear, Elevated circulating alkaline phosphatas...	ORPHA:247262
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Pulmonary carcinoid tumor, Abnormal intra...	ORPHA:363618
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Albi...	OMIM:614074
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy...	ORPHA:3143
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Hematuria, Hypochromic anemia, Joint hemorrhage	ORPHA:99147
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea	ORPHA:2754
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Small for gestational age, Hypospadias, Highly arched eyebrow, Hypoglycemia, Microvesi...	OMIM:220111
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Urinary incontinence, Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of the...	OMIM:613115
Scleromyxedema	Abnormality of thyroid physiology, Elevated circulating creatine kinase concentration, Abnormalit...	ORPHA:167635
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ...	OMIM:241080
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Cockayne Syndrome B	Hepatomegaly, Dry hair, Renal insufficiency, Abnormal pinna morphology, Small for gestational age...	OMIM:133540
Craniofacioskeletal Syndrome	Absent gallbladder, Posteriorly rotated ears, Hypospadias, Microtia, Hypocalcemia, Hydronephrosis	OMIM:300712
Genitopatellar Syndrome	Apnea	ORPHA:85201
Silver-Russell Syndrome	Low-set, posteriorly rotated ears, Failure to thrive in infancy, Hypospadias, Cachexia, Precociou...	ORPHA:813
Björnstad Syndrome	Alopecia, Sensorineural hearing impairment, Brittle hair, Hypogonadism	ORPHA:123
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome	OMIM:201910
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Hypo...	OMIM:129400
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S...	OMIM:301050
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Autoimmunity, Mediastinal lymphadenopathy, Autoimmune antibody p...	ORPHA:79128
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Plague	Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Enterocoliti...	ORPHA:707
Chops Syndrome	Curly hair, Thickened helices, Thick hair, Splenomegaly, Synophrys, Obesity, Vesicoureteral reflu...	OMIM:616368
Atelis Syndrome 2	Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi...	OMIM:620185
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea	ORPHA:466722
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hereditary Mucoepithelial Dysplasia	Alopecia, Abnormality of the bladder, Hematuria, Fine hair, Sparse hair	ORPHA:1839
Ane Syndrome	Alopecia, Multiple joint contractures, Hypogonadotropic hypogonadism, Anterior pituitary hypoplas...	ORPHA:157954
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Eiken Syndrome	Delayed epiphyseal ossification, Elevated circulating alkaline phosphatase concentration, Delayed...	OMIM:600002
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin	ORPHA:90156
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Cutis laxa, Alopecia of scalp, Hy...	ORPHA:2269
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Skin ulcer, Erythroderma	ORPHA:312
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Abnormality of the kidney, Autoimmunity, Flexion cont...	ORPHA:90289
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Pruritus, Myo...	ORPHA:221
Hutchinson-Gilford Progeria Syndrome	Alopecia, Osteolysis, Generalized osteoporosis	OMIM:176670
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Joubert Syndrome 2	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:608091
Joubert Syndrome 21	Dyspnea, Respiratory failure, Chronic sinusitis, Apnea	OMIM:615636
Hyperkeratosis Lenticularis Perstans	Pruritus, Skin ulcer	ORPHA:409
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata...	OMIM:262600
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Abnormality of the kidney, Sensorineural hearing impairment, H...	ORPHA:3320
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste...	OMIM:257220
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea	ORPHA:395
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy...	ORPHA:31826
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Protruding ear, Pineal ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Protruding ear, Pineal ...	ORPHA:363958
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthrit...	ORPHA:342
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ...	OMIM:175200
Schwartz-Jampel Syndrome	Pulmonary arterial hypertension, Apnea, Respiratory insufficiency, Death in infancy	ORPHA:800
Xeroderma Pigmentosum	Craniofacial hyperostosis, Alopecia, Keratitis, Sensorineural hearing impairment, Erythema, Dry s...	ORPHA:910
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia	ORPHA:1867
Distal Deletion 19P	Low-set, posteriorly rotated ears, Alopecia, Sensorineural hearing impairment, Decreased circulat...	ORPHA:96129
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Vici Syndrome	Decreased circulating IgG level, Joint stiffness, Sensorineural hearing impairment, Ureteral atre...	ORPHA:1493
Buerger Disease	Skin ulcer	ORPHA:36258
Intellectual Developmental Disorder, Autosomal Dominant 54	Apnea, Hyperventilation	OMIM:617799
Jacobsen Syndrome	Hypospadias, Abnormal eyelash morphology, Flexion contracture, Low-set ears, Annular pancreas, Fa...	OMIM:147791
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Skin ulcer, Trichoepithelioma, Cylindroma, Hearing impairment	ORPHA:79493
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla...	ORPHA:544488
Myelofibrosis	Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Spondyloocular Syndrome	Osteopenia, Posteriorly rotated ears, Sensorineural hearing impairment, Low posterior hairline, L...	OMIM:605822
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:213300
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ...	ORPHA:847
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Eczema, Aplasia/Hypoplasia of th...	ORPHA:2308
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive	OMIM:616353
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia, Hematuria, Bilateral sensorineural hearing impairment, Ecch...	ORPHA:853
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste...	ORPHA:69735
Mucolipidosis Type Ii	Hip contracture, Dry hair, Craniosynostosis, Limited wrist movement, Splenomegaly, Sensorineural ...	ORPHA:576
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary incontinence, Limitation of joint mobility, Skin ulcer, Urinary bladd...	ORPHA:206583
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, External ear malformation, Long penis, Knee f...	ORPHA:3103
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Failure to thrive, Posteriorly rotated ears, High...	OMIM:613563
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Lack of skin elasticity, Joint stiffness	ORPHA:1366
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Mixed hearing impairment, Obesity, Long eyelashes, Low-set ears, Thickened helices, Overfolded he...	OMIM:608624
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90158
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Failure to thrive, Flexion contracture, Protruding ear, Patchy alopecia, Decreased body weight, C...	OMIM:300534
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Brain abscess, Liver abscess, Bacterial endocarditis	ORPHA:2038
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Stüve-Wiedemann Syndrome	Osteopenia, Recurrent fractures, Camptodactyly of finger, Flexion contracture, Osteoporosis, Limi...	ORPHA:3206
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis, Hearing impairment	ORPHA:85202
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Alopecia, Posteriorly rotated ears, Osteomalacia, Hydr...	ORPHA:2636
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Skin ulcer, Protruding ear, ...	ORPHA:2526
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Tarp Syndrome	Intrauterine growth retardation, Apnea	ORPHA:2886
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Joint hyperflexibility, Thyroid carcinoma...	ORPHA:109
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoplastic fifth toenail, Hypoglycemia, Supernumerary nipple, Low-set ears, Contracture of the p...	ORPHA:457279
Kawasaki Disease	Pericarditis, Abnormality of nail color, Skin rash, Proteinuria, Myocarditis, Jaundice, Leukocyto...	ORPHA:2331
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Hyperconvex nail, Hypospadias, Hydroureter, S...	OMIM:269150
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Osteopetrosis, Conductive hearing impairment, Calvarial osteosclerosi...	OMIM:607634
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Apnea	OMIM:261740
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Protruding ear, Fine hair, Keratoconjunctivitis sicca...	ORPHA:1806
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia, Impaired T cell function	OMIM:192430
Xp21 Deletion Syndrome	Apneic episodes in infancy	ORPHA:261476
Bilateral Perisylvian Polymicrogyria	Aspiration, Apnea, Intrauterine growth retardation	ORPHA:98889
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Eczema, Camptodactyly of finger, Abnormal preputium morphology,...	ORPHA:2907
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Conductive hearing impairment, Dystrophic fingernai...	ORPHA:740
Orofaciodigital Syndrome I	Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Hepatic fibrosis, Low-set ears, Polycystic kid...	OMIM:311200
Shprintzen-Goldberg Syndrome	Apnea	ORPHA:2462
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Ivic Syndrome	Hearing impairment, Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synos...	ORPHA:2307
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Congenital hypothyroidism, Delayed ossification of carpal bones, Neutropenia, Laryngo...	OMIM:271510
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Intellectual Developmental Disorder, Autosomal Dominant 45	Neonatal hypoglycemia, Skin rash, Slender build	OMIM:617600
Oculocerebrocutaneous Syndrome	External ear malformation, Alopecia, Abnormal fingernail morphology, Hearing impairment	ORPHA:1647
Weill-Marchesani Syndrome 2	Striae distensae, Joint stiffness, Elbow flexion contracture, Lack of skin elasticity, Thickened ...	OMIM:608328
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre...	ORPHA:273
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Pr...	ORPHA:556
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Joint hypermobility, Trichorrhexis nodosa, Small nail, Recurrent otitis media, Pili tor...	OMIM:261990
Perlman Syndrome	Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Nephroblastomatosis, ...	OMIM:267000
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Mosaic Variegated Aneuploidy Syndrome	Intrauterine growth retardation, Apnea	ORPHA:1052
Osteopathia Striata With Cranial Sclerosis	Tracheomalacia, Apnea	OMIM:300373
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Pustule, Orchitis, Ery...	ORPHA:761
Bohring-Opitz Syndrome	Intrauterine growth retardation, Apnea	ORPHA:97297
Costello Syndrome	Deep-set nails, Hyperextensibility of the finger joints, Curly hair, Redundant neck skin, Posteri...	OMIM:218040
Histiocytoid Cardiomyopathy	Hepatomegaly, Hypoglycemia, Cardiomegaly, Renal cyst, Pallor, Failure to thrive	ORPHA:137675
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst, Elevated circulating creatinine concentration, Low-set ears	OMIM:617478
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Recurrent pneumonia, Increased size of nasopharyngeal ad...	OMIM:619769
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail d...	ORPHA:2309
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Sensorineural hearing impairment, Hypoglycemia, Elbow contracture	OMIM:620275
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Fine hair, Low-set ears, Sp...	OMIM:613451
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, Decreased circu...	OMIM:250790
Sapho Syndrome	Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Recurrent ...	ORPHA:793
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Ectopic kidney, Absent eyelashes, ...	OMIM:263650
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Mixed hearing impairment, Ectopi...	OMIM:620305
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Congenital foot con...	ORPHA:565624
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p...	OMIM:618372
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth...	OMIM:617321
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Sparse ...	ORPHA:3455
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Woolly hair, Palmoplantar scaling skin, Nail dystroph...	OMIM:605676
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Alopecia, Sensorineural hearing impairment, Nail dystrophy, Onychogryp...	ORPHA:79395
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:610188
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Splenomegaly, Defective production of NFKB1-dependent cytokines,...	OMIM:612132
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Sensorineural hearing impairment, Coarse hair, Hypogonadism, Ha...	OMIM:262000
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Cardiomegaly, Abnormal calcification of the carpal bones, Nephrocalcinosis...	ORPHA:51608
Pituitary Stalk Interruption Syndrome	Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidis...	ORPHA:95496
Charge Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop...	OMIM:214800
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ac...	OMIM:256840
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Skin ulcer, Fine hair, ...	ORPHA:978
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Bartsocas-Papas Syndrome	Alopecia totalis, Renal hypoplasia/aplasia, Hypoplastic toenails, Sparse or absent eyelashes, Syn...	ORPHA:1234
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Sensorineural hearing impairment, Osteomyelitis, Acral ulceration	OMIM:162400
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Encephalitis Lethargica	Autoimmunity, Stiff neck, Increased circulating antibody level, Urinary incontinence	ORPHA:83600
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Hyperventilation	ORPHA:522077
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness, Skin rash, Psoriasiform...	ORPHA:85436
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Micropenis, Low anterior hairline, Hypoglycemia	OMIM:620224
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Urinary incontinence	OMIM:600142
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Absent eyelashes, Patchy a...	OMIM:106260
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration, Hypoplastic fifth fingernail, Sensorineu...	OMIM:614207
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Small for gestational age, Decreased response to growth hormone stimulation test, Pr...	ORPHA:96182
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Erythema, Small nail	OMIM:242100
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Diethylstilbestrol Syndrome	Central apnea	ORPHA:1916
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Olmsted Syndrome 1	Subungual hyperkeratosis, Pruritus, Flexion contracture, Nail dystrophy, Nail dysplasia, Sparse h...	OMIM:614594
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea	ORPHA:98754
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Pruritus, Erythema nodosum, Periostitis, Cru...	ORPHA:324625
Parkes Weber Syndrome	Skin ulcer, Abnormal lymphatic vessel morphology, Nephrotic syndrome, Abnormality of the urinary ...	ORPHA:90307
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, Small earlobe, Renal hyp...	OMIM:181270
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea	ORPHA:177901
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Nephroblastoma, Neonatal hypoglycemia, Cardiomegaly, Adr...	OMIM:130650
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts, Elevated circulating alkaline phosphatase concentrat...	OMIM:618548
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Olmsted Syndrome 2	Pruritus, Cheilitis, Flexion contracture of digit, Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Unilateral Polymicrogyria	Apnea, Epistaxis	ORPHA:268943
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:90695
Autosomal Recessive Robinow Syndrome	Low-set, posteriorly rotated ears, Alopecia, Hypoplasia of penis, Multicystic kidney dysplasia, C...	ORPHA:1507
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Renal insufficiency, Glomerulopath...	ORPHA:117
Gastrointestinal Stromal Tumor	Abnormality of the liver, Skin rash, Anemia	ORPHA:44890
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Abnormality of the kidney, Early balding, Low posterior hairline, Iron deficiency anemia, Hepatob...	ORPHA:261584
Phakomatosis Pigmentokeratotica	Precocious puberty, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Patchy alopec...	ORPHA:2874
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Scaling skin, Periungual erythema, Atrichia, Dystrophic fingernails, Absent eyebrow, Alopecia, Su...	OMIM:308205
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Dry skin, Scaling skin, Nail dystrophy, Alopecia of scalp	OMIM:618373
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Wolfram Syndrome	Central apnea, Respiratory insufficiency	ORPHA:3463
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Abnormal circulating enzyme concentration or activity,...	ORPHA:25
Monocarboxylate Transporter 1 Deficiency	Ketonuria, Ketotic hypoglycemia	OMIM:616095
Olmsted Syndrome, X-Linked	Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis	OMIM:300918
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea	ORPHA:2751
Slc39A8-Cdg	Sudden episodic apnea	ORPHA:468699
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Abnormal pinna morphology, Cardiomegaly, Absent eyelashes, Absent toenail, Absent...	ORPHA:158687
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Camptodactyly of finger, Phimosis, Flexion contrac...	ORPHA:2908
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Posteriorly rotated ears, Eczema, Recurrent pneumonia, Protruding ear, Hypocalcemia...	OMIM:620330
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Abnormal eyelash morphology, Bone cyst, Osteolysis	ORPHA:2396
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Painless fractu...	OMIM:201300
Vascular Ehlers-Danlos Syndrome	Alopecia, Hypospadias, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, ...	ORPHA:286
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Alopecia, Hypoplasia of penis, Posteriorly rotated ears, Camptodactyly...	ORPHA:3107
Cerebral Visual Impairment	Infectious encephalitis, Neonatal hypoglycemia	ORPHA:447788
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthritis, Painless fractures due ...	OMIM:608654
Limb-Mammary Syndrome	Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr...	ORPHA:69085
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog...	ORPHA:95494
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia	OMIM:175050
Ring Chromosome 13 Syndrome	Alopecia, Hypoplasia of the gallbladder, Posteriorly rotated ears, Hypospadias, Urogenital sinus ...	ORPHA:96176
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis, Tinnitus	ORPHA:863
Satoyoshi Syndrome	Abnormal hair morphology, Nephrogenic diabetes insipidus, Sparse or absent eyelashes, Hypoplasia ...	ORPHA:3130
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Low-set, posteriorly rotated ears, Neonatal hypoglycemia, Large for gestational age...	ORPHA:457359
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Curly hair, Failure to thrive in infancy, Sagittal craniosynostosis, Unilater...	ORPHA:500150
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Dry skin, Lymphadenopathy, Neutro...	OMIM:617827
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti...	OMIM:186580
Faciocardiomelic Syndrome	Osteopenia, Short eyelashes, Thin bony cortex, Large for gestational age	OMIM:612731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Aspiration pneumonia, Breathing dysregulation	ORPHA:438213
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex, Hearing impairment	OMIM:619727
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93924
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheili...	ORPHA:158668
Encephalocraniocutaneous Lipomatosis	Alopecia, Pelvic kidney, Hydronephrosis	OMIM:613001
Boudin-Mortier Syndrome	Joint laxity, Elevated alkaline phosphatase of bone origin	OMIM:619543
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge...	OMIM:608232
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Aspartylglucosaminuria, Acne, Vacuolated lymphocytes, Neutropenia, Pa...	OMIM:208400
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Oligosacchariduria, Cheilitis, Lymphadenopathy	ORPHA:2483
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Osteomyelitis, Keratitis, Acral ulceration, Nail dysplasia, Nail dystrophy	OMIM:256800
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
17Q11 Microdeletion Syndrome	Osteopenia, Precocious puberty, Osteoporosis, Osteolysis, Renovascular hypertension, Glomus jugul...	ORPHA:97685
Cysticercosis	Iridocyclitis, Stiff neck, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis, Decr...	OMIM:109650
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Hypermobile Ehlers-Danlos Syndrome	Apnea	ORPHA:285
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal pinna morphology, Micropenis, Thickened cortex of long bones, Thick eyebrow	ORPHA:488434
Sympathetic Ophthalmia	Alopecia, Poliosis, Erythema, Posterior uveitis, Tinnitus, Hearing impairment	ORPHA:79098
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn...	ORPHA:99125
Charcot-Marie-Tooth Disease Type 4B2	Sensorineural hearing impairment, Penetrating foot ulcers	ORPHA:99956
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Abnormality of alkaline phosphatase level, Limited elbow extension, Delayed ossific...	OMIM:300106
Renal Agenesis, Bilateral	Nonketotic hypoglycemia, Renal agenesis, Low-set ears	ORPHA:1848
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Posteriorly rotated ears, Sparse eyelashes, Supernumerary nipple, Hy...	OMIM:601803
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Renal dupl...	ORPHA:573278
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Recurrent loss of toenails and fingernails, Nail dystrophy, Skin ulcer	OMIM:245660
Trichotillomania	Alopecia	OMIM:613229
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Holoprosencephaly 1	Micropenis, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100

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 Jak1

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 Jak1.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
JAK1 signaling in dendritic cells promotes peripheral tolerance in autoimmunity through PD-L1-mediated regulatory T cell induction.	Cell reports (February 2022)	Jak1^{tm1a(EUCOMM)Hmgu}	35196494
STAT1 Isoforms Differentially Regulate NK Cell Maturation and Anti-tumor Activity.	Frontiers in immunology (September 2020)	Jak1^{tm1c(EUCOMM)Hmgu/H}	PMC7519029
Loss of JAK1 Drives Innate Immune Deficiency.	Frontiers in immunology (January 2018)	Jak1^{tm1a(EUCOMM)Hmgu}	PMC6331462

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
Jak1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Jak1^{tm1(NCOM)Cmhd}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Jak1^{tm458(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Jak1^{tm458(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Jak1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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