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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 (2434 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		Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999

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

Disease	Matching phenotypes	Source
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Infl...	ORPHA:398063
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos...	OMIM:618534
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatospl...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopeni...	ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Reduced natural killer cell act...	OMIM:603553
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi...	ORPHA:2298
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob...	ORPHA:848
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Lymphopenia, Follicular hyperplasia, Pustule, Antiphospholipid antibody ...	OMIM:615934
Adamantinoma	Hypercalcemia	ORPHA:55881
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Hepatomegaly...	OMIM:308240
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Sensorineural hearing impairment, Erythroderma, Neutropenia, Reduced natural ki...	ORPHA:540
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In...	OMIM:619868
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Schnitzler Syndrome	Pruritus, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia...	ORPHA:37748
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Macrophage Activation Syndrome	Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con...	ORPHA:158061
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Low-set ears, Recurrent pneumonia, Hypertrichosis, Microcytic anemia, Hepatosplenomegaly, Hypothy...	OMIM:619750
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Increased circulating IgE level, Hypopituitarism, Recurrent ...	ORPHA:98813
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Ascites, L...	ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased...	ORPHA:169154
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Recurrent urinary tract infec...	OMIM:612783
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru...	OMIM:232800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG...	OMIM:226990
Late-Onset Isolated Acth Deficiency	Dry skin, Weight loss, Hypoparathyroidism, Pituitary adenoma, Graves disease, Decreased circulati...	ORPHA:199299
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets, Sensorineural hearing impairment	OMIM:241520
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Puncta...	OMIM:617388
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Hypothyroidism, Iron deficie...	OMIM:226300
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ...	ORPHA:186
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Abnormal delay...	OMIM:301000
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Hearing impairment, Failure to thrive, Recurrent otitis media, ...	ORPHA:397596
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi...	OMIM:306000
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Ane...	OMIM:603554
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Anemia, Congenital Dyserythropoietic, Type Ib	Small nail, Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:615631
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo...	OMIM:619013
Multiple Myeloma	Nephropathy, Osteopenia, Nephrotic syndrome, Acute kidney injury, Pathologic fracture, Elevated c...	ORPHA:29073
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
X-Linked Agammaglobulinemia	Sensorineural hearing impairment, Weight loss, Neutropenia, Recurrent cutaneous abscess formation...	ORPHA:47
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Elevated...	ORPHA:289157
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp...	OMIM:618987
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Anticardiolipin IgM antibody positivity, Jaundice, Ascites, In...	ORPHA:64743
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis...	OMIM:618805
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Alpha-Heavy Chain Disease	Alopecia, Ascites, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopath...	ORPHA:100025
Fanconi-Bickel Syndrome	Nephropathy, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated ...	ORPHA:2088
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 76	Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Redu...	OMIM:261750
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Congenital Disorder Of Glycosylation, Type Iik	Low-set ears, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, J...	OMIM:614727
Autosomal Erythropoietic Protoporphyria	Erythema, Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Abn...	ORPHA:79278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Apnea, Neonatal death	OMIM:615228
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Skin ulcer, Increased circulating ferritin co...	OMIM:620603
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome...	ORPHA:247598
Glycogen Storage Disease Ib	Inflammation of the large intestine, Reduced hepatic glucose-6-phosphate translocase activity, Xa...	OMIM:232220
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Redu...	OMIM:246450
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Hypoproteinemia, Abnormal hair quantity	ORPHA:1116
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia, H...	ORPHA:2123
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Failure...	OMIM:617718
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Death in childhood, Hypoplasia of the thymus	OMIM:200900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Tubulointerst...	ORPHA:79259
Mucopolysaccharidosis-Plus Syndrome	Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste...	OMIM:617303
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Dry skin, Hepatosplenomegaly, Chilblains, Hepatic steatos...	OMIM:619487
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, In...	ORPHA:2905
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato...	OMIM:609628
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia,...	ORPHA:69077
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Alg12-Cdg	Small nail, Recurrent hypoglycemia, Abnormal circulating IgG level, Sensorineural hearing impairm...	ORPHA:79324
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopen...	OMIM:152800
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate amin...	OMIM:257200
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Low-set ears, Failure to thrive, Decreased liver function, Cholestasis, Decrease...	OMIM:608104
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatome...	ORPHA:172
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal...	ORPHA:77297
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Addison Disease	Adrenal calcification, Dry skin, Weight loss, Hypoparathyroidism, Renal salt wasting, Hyperkalemi...	ORPHA:85138
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Increased circulating interleukin 8 concentration, Premature graying of hair, Microcyti...	OMIM:256040
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ...	OMIM:613845
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Hepatomegaly, Nephrotic syndrome, Macrotia, Osteopenia, Hypothyroidism, Flexio...	OMIM:212065
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Increa...	ORPHA:232
Dengue Fever	Ascites, Leukopenia, Skin rash, Petechiae, Thrombocytopenia, Hepatomegaly, Pruritus, Hypoproteinemia	ORPHA:99828
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Lymph node hypoplasia, Autoimmune thrombocyto...	OMIM:613179
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Eczematoid dermat...	OMIM:617780
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Osteomalacia, Hyperbilirubinemia, Elevate...	OMIM:227810
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Burkitt Lymphoma	Increased circulating lactate dehydrogenase concentration, Abnormal lymph node morphology, Abnorm...	ORPHA:543
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Sensorin...	OMIM:203800
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Enure...	ORPHA:247585
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Cirrhosis, Curly hair, Brittle hair, Hepatomegaly, Jaundice, Sparse ha...	OMIM:222470
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Re...	ORPHA:20
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Systemic lupus erythematosus, Skin...	OMIM:170100
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Johanson-Blizzard Syndrome	Hypospadias, Alopecia, Failure to thrive, Exocrine pancreatic insufficiency, Sensorineural hearin...	ORPHA:2315
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re...	ORPHA:83313
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatitis, Eczematoid...	OMIM:620565
Morgagni-Stewart-Morel Syndrome	Acne, Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hirsutism, Hypothyroidism, Hyperc...	ORPHA:77296
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Petechiae...	OMIM:313900
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fib...	ORPHA:369
H Syndrome	Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Abnormality o...	ORPHA:168569
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Bone cyst, Sensorineural hearing impairment, Proteinuri...	ORPHA:2668
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Splenomegaly...	OMIM:235255
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Failure to thriv...	OMIM:617872
Hypophosphatasia, Infantile	Unossified vertebral bodies, Nephrocalcinosis, Phosphoethanolaminuria, Failure to thrive, Elevate...	OMIM:241500
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Alopecia, Decreased serum estradiol, Elevated circulating hepatic transaminase concen...	ORPHA:2959
Lesch-Nyhan Syndrome	Renal insufficiency, Gout, Hyperuricemia, Hematuria, Anemia	ORPHA:510
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Chronic kidney disease, Elevated c...	ORPHA:1667
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:618495
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Apnea, Death in infancy	OMIM:613869
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Increased circulating lactate dehydrogenase concentration, Abnormal ...	ORPHA:86841
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	OMIM:616026
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Congenital Disorder Of Glycosylation, Type Iq	Low-set ears, Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Fai...	OMIM:612379
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, Failure to thrive, 3-Methylglutaconic aciduria, Anisocytosis, He...	OMIM:604273
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Splenomegaly, Hyperuricemia, Hepatic ste...	ORPHA:79083
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo...	OMIM:232200
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Adrenal calcification, Acute...	OMIM:278000
Livedoid Vasculopathy	Abnormality of complement system, Graves disease, Polycythemia, Abnormal circulating lipid concen...	ORPHA:542643
Acute Adrenal Insufficiency	Dry skin, Weight loss, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal ...	ORPHA:95409
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Ascites, Hepatospleno...	ORPHA:1655
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology	OMIM:613501
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Failure to thrive, Increased circulating ferritin concentration, Microcytic a...	OMIM:600462
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski...	OMIM:603552
Gaucher Disease Type 1	Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increased circulating antibody level, Hematuria,...	ORPHA:77259
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ele...	ORPHA:26793
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Propionic Acidemia	Hyperglycinuria, Eczematoid dermatitis, Increased level of hippuric acid in urine, Failure to thr...	OMIM:606054
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Weight loss, Abnormality of the kidney, Nephrotic syndrome, Purpura, ...	ORPHA:91139
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Pallor, Weig...	ORPHA:134
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Failure to thrive, Increase...	OMIM:304790
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Hearing impairment, Elevated circulating gamma-amino...	OMIM:619658
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Absent leukocyte alkaline phosphatase	OMIM:242880
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Poikilocytosis...	ORPHA:79277
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Rickets, Failu...	OMIM:241530
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia, Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Hyp...	ORPHA:89937
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Elevated circulating h...	OMIM:251880
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ...	ORPHA:470
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:613752
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce...	OMIM:617241
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Reduced circulating complement concen...	ORPHA:79237
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Hearing impairment, Failure to thrive,...	OMIM:259700
Aggressive Systemic Mastocytosis	Hypersplenism, Hepatosplenomegaly, Pancytopenia, Elevated circulating alkaline phosphatase concen...	ORPHA:98850
Celiac Disease, Susceptibility To, 1	Alopecia, Type I diabetes mellitus, Rickets, Elevated circulating hepatic transaminase concentrat...	OMIM:212750
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, H...	OMIM:307800
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Splenomegaly, H...	OMIM:239200
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos...	OMIM:277900
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, Follicular ...	OMIM:619381
Preeclampsia	Chronic kidney disease, Type I diabetes mellitus, Elevated circulating hepatic transaminase conce...	ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Alg6-Cdg	Hypoalbuminemia, Low-set ears, Failure to thrive, Puberty and gonadal disorders, Abnormality of t...	ORPHA:79320
Hypophosphatasia	Failure to thrive in infancy, Anemia, Craniosynostosis, Hypercalcemia, Recurrent fractures	ORPHA:436
Pearson Syndrome	Hearing impairment, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyro...	ORPHA:699
Phosphoserine Aminotransferase Deficiency	Apnea, Death in infancy	OMIM:610992
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas...	ORPHA:54057
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly...	ORPHA:331206
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver...	OMIM:617021
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
Cystinosis	Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Failure to thrive, Portal hyperten...	ORPHA:213
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Cystic Echinococcosis	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Peritoneal abscess, Elevated...	ORPHA:400
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Oculoskeletodental Syndrome	Renal agenesis, Hearing impairment, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Low an...	OMIM:618440
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circulating creat...	ORPHA:36234
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Renal insufficiency, Elevated cir...	ORPHA:85443
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Joi...	OMIM:620210
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr...	OMIM:617093
Immunodeficiency 23	Allergic rhinitis, Erythema, Conductive hearing impairment, Eczematoid dermatitis, Chronic mucocu...	OMIM:615816
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia, Neonatal death	OMIM:257100
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Hydroxyprolinuria, Hearing impairment, Increased bone mineral dens...	OMIM:239000
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Seizures, Benign Familial Infantile, 3	Apnea	OMIM:607745
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L...	ORPHA:247353
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ...	OMIM:618278
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hyperbilirubinemia, Dark urine, ...	ORPHA:79303
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Erythema, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Alopecia, Limitation of joint mobility, Hearing impairment, Failure to thri...	ORPHA:337
Sitosterolemia 1	Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Hyper...	OMIM:210250
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Alopecia universalis, Rickets, Elevated circulating parathyroid ...	OMIM:277440
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequat...	ORPHA:67044
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Increased body weight, Myoglobinuria, Cirrhosis, Hepatomegaly, Po...	ORPHA:264580
Syndromic Diarrhea	Lymphopenia, Dry skin, Colitis, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic...	ORPHA:84064
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy...	ORPHA:71275
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Acute myeloid leukemia, N...	ORPHA:158057
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure	ORPHA:46532
Mevalonic Aciduria	Low-set ears, Elevated circulating hepatic transaminase concentration, Increased circulating lact...	OMIM:610377
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly,...	ORPHA:2204
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Hyper...	ORPHA:562639
Blue Diaper Syndrome	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Ele...	ORPHA:94086
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:94093
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Elevated circulating parathy...	OMIM:264700
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis...	ORPHA:292
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c...	OMIM:607271
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Ascites, Hepatosplenomegaly, Leukocyto...	ORPHA:457077
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-...	OMIM:617099
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Osteopenia, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly...	OMIM:612714
Porphyria Cutanea Tarda	Portal inflammation, Systemic lupus erythematosus, Hepatic steatosis, Decreased circulating hepci...	ORPHA:101330
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Increased u...	ORPHA:348
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp...	OMIM:601457
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Gaucher Disease	Hearing impairment, Decreased HDL cholesterol concentration, Pancytopenia, Increased circulating ...	ORPHA:355
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Delayed puberty, Episodic hemolytic anemia, Membranoproliferative glomerulo...	ORPHA:251004
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypochromic microcytic anemia, Hypoproteinemia, Giant hypertrophic ...	ORPHA:2494
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoglycemic seizures, Large for gestational age, Hyp...	ORPHA:293964
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,...	OMIM:256300
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria, Hearing impairment, Failure to thrive, Microcytic anemia, ...	OMIM:612073
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat...	OMIM:300555
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypogl...	OMIM:617575
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Hearing impairment, Failure to thrive, Skin ulcer, Leukopenia, ...	ORPHA:33355
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Palpable purpura, Increase...	ORPHA:48435
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Alopecia, Elevated circulating hepatic...	OMIM:242150
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Trichothiodystrophy 3, Photosensitive	Low-set ears, Hearing impairment, Failure to thrive, Trichorrhexis nodosa, Lymphopenia, Tiger tai...	OMIM:616395
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly,...	OMIM:259720
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:301310
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Hyperlipidemia, Splenomegaly...	OMIM:214900
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Failure to thrive, Normochromic microcytic anemia, Elevated circulatin...	OMIM:610198
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ...	ORPHA:90060
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased circulating IgA level, Recurren...	OMIM:617744
Seizures, Benign Familial Infantile, 1	Apnea	OMIM:601764
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Low-set ears, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Hep...	OMIM:608776
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Lupus anticoagulant, Eryth...	OMIM:615688
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Small for gestational age, Keratitis, Conductive hearing impairment, Failure...	ORPHA:99843
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Elevated gamma-glutamyltransferase level, Microcytic anemia, Recurrent otitis media...	OMIM:619525
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Hypocalcemia, Sparse bone trabeculae...	OMIM:600081
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Reduced circulating complement concentration, Elevated circulating creatinin...	ORPHA:567544
Systemic Lupus Erythematosus 17	Alopecia, Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopen...	OMIM:301080
Immunodeficiency 51	Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc...	OMIM:613953
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy	OMIM:611722
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Nephrotic syndrome...	ORPHA:505248
Forsythe-Wakeling Syndrome	Low-set ears, Nephrotic syndrome, Decreased body weight, Thrombocytopenia, Osteoporosis, Macrotia	OMIM:613606
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Pathologic fractur...	ORPHA:157215
Hyper-Igd Syndrome	Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ...	OMIM:260920
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Rheumatoid factor positive, Skin ulcer,...	ORPHA:90280
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ...	OMIM:607594
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome...	OMIM:617591
Classic Mycosis Fungoides	Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, ...	ORPHA:2584
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c...	OMIM:251900
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated...	ORPHA:171706
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, High-frequency hearing impairment, Organic aciduria, Hypomagnesemia, Stage ...	OMIM:619743
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E...	OMIM:614700
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple...	OMIM:616005
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Low-set ears, Osteopenia, Hypospadias, Decreased response to growth hormone stimulation test, Hyp...	OMIM:614732
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt...	ORPHA:436159
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Type I diabetes mellitus, Antineutr...	OMIM:301078
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hirsutism, Hepatic steatosis,...	OMIM:612526
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Pituitary adenoma, Increased ci...	ORPHA:97289
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Osteopenia, Hypot...	ORPHA:14
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Oroticacid...	OMIM:258900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, In...	ORPHA:454836
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos...	ORPHA:97280
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple...	ORPHA:263501
Juvenile Paget Disease	Coarse metaphyseal trabecularization, Hearing impairment, Cranial hyperostosis, Hyperuricemia, Os...	ORPHA:2801
Infantile Myofibromatosis	Limitation of joint mobility, Skin ulcer, Abnormal hair morphology, Neoplasm of the pancreas, Bon...	ORPHA:2591
Vipoma	Erythema, Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulati...	ORPHA:97282
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con...	OMIM:620366
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Aplasia/Hypoplasia of the earlobes, HbH hemoglobin, Failure to thrive, Microcytic anemia, Low-set...	ORPHA:98791
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni...	ORPHA:411593
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Abnormality of complement system, Acute ...	ORPHA:2134
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Incre...	OMIM:619644
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentratio...	OMIM:248250
Srd5A3-Cdg	Elevated circulating hepatic transaminase concentration, Hypertrichosis, Microcytic anemia, Decre...	ORPHA:324737
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
Immunodeficiency 104	T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections, Lymphadenop...	OMIM:608971
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased...	ORPHA:449395
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	ORPHA:99826
Zika Virus Disease	Myelitis, Pruritus, Skin rash, Maculopapular exanthema, Infectious encephalitis, Transient hearin...	ORPHA:448237
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome...	OMIM:219800
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub...	OMIM:613658
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Giant platelets,...	ORPHA:182050
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ...	OMIM:614470
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Hypoglycemia, Cyclic neu...	OMIM:232240
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Skin ulcer, Abnormal lymphocyte morphology, Autoimmunity, Otitis me...	ORPHA:229717
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Lupus a...	ORPHA:93552
Dent Disease 1	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, ...	OMIM:300009
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Dry skin, Abnormal lymphocyte morphology, Autoimmunity, L...	ORPHA:39041
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Molluscum contagiosum...	OMIM:243700
Relapsing Fever	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:91547
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:254210
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Congenital hypothyroidism, Obesity, Cardiomegaly, Colitis, Craniosynostosis	ORPHA:88643
Felty Syndrome	Limitation of joint mobility, Synovitis, Weight loss, Neutropenia, Hepatomegaly, Chronic otitis m...	ORPHA:47612
Shwachman-Diamond Syndrome	Aplastic anemia, Hearing impairment, Hypopituitarism, Pancytopenia, Increased serum bile acid con...	ORPHA:811
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ...	ORPHA:381
Combined Oxidative Phosphorylation Deficiency 53	Failure to thrive, Osteomyelitis, Hepatomegaly, Elevated circulating C-reactive protein concentra...	OMIM:619423
Drug-Induced Lupus Erythematosus	Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Lupus anticoagulant, A...	ORPHA:231111
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, T lymph...	ORPHA:277
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hypoalbuminemia, Ascites, Leukocytosis, Eosinophilia, Weigh...	ORPHA:2070
Hemochromatosis, Type 1	Alopecia, Elevated circulating hepatic transaminase concentration, Increased circulating iron con...	OMIM:235200
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil...	ORPHA:210110
Aicardi-Goutieres Syndrome 6	Chilblains, Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Eosinophilia, In...	ORPHA:555905
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Adren...	OMIM:619386
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Peroxisome Biogenesis Disorder 3B	Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Sensori...	OMIM:266510
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Decreased liver function, Hearing impairment, Hypoglycemia, 3-Methylglutaconic...	ORPHA:67048
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia, Elevated urinary quinolinic acid level, Failure to thrive, Lacticaciduria	OMIM:618811
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur...	ORPHA:367
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia...	ORPHA:79240
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Chilblains, Thromboc...	OMIM:610329
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Candidiasis, Familial, 1	Cutaneous anergy, Alopecia, Chronic mucocutaneous candidiasis, Abnormality of the endocrine system	OMIM:114580
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Dermatitis Herpetiformis	Erythema, Eczematoid dermatitis, Microcytic anemia, Abnormality of the thyroid gland, Autoimmunit...	ORPHA:1656
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a...	ORPHA:781
Autosomal Recessive Malignant Osteopetrosis	Hearing impairment, Pallor, Splenomegaly, Otitis media, Chronic rhinitis, Hypocalcemia, Hepatomeg...	ORPHA:667
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp...	OMIM:618108
Auriculocondylar Syndrome 4	Apnea	OMIM:620457
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions	ORPHA:137935
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Abnormal circulat...	ORPHA:79319
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
C1Q Deficiency 2	Discoid lupus rash, Rheumatoid factor positive, Recurrent otitis media, Malar rash, Chilblains, A...	OMIM:620321
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Failure to thrive, Hepa...	OMIM:602579
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi...	OMIM:300554
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Erythema nodosum, Tubulointerstitial nephritis, Hepa...	ORPHA:797
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsu...	ORPHA:324575
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Alopecia, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent frac...	ORPHA:93160
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ...	ORPHA:94059
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Secondary hyperaldosteronism, Reduced circulat...	ORPHA:90363
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, Osteopenia, Nephrocalcinosis, Abnormality of the urinary system, Low-set ears...	ORPHA:369837
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Fanconi Renotubular Syndrome 1	Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi...	OMIM:134600
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Preeclampsia/Eclampsia 1	Proteinuria, Elevated circulating hepatic transaminase concentration, Thrombocytopenia	OMIM:189800
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, El...	OMIM:613388
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria	ORPHA:67046
Non-Functioning Paraganglioma	Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l...	ORPHA:94080
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Elevated ...	ORPHA:67
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Hearing impairment, Osteomalacia, Elevated circulating alka...	ORPHA:249
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:619048
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Hearing impairment, Failure to thrive, Pancytopenia, Abnormali...	ORPHA:2169
Acatalasemia	Type I diabetes mellitus, Microcytic anemia, Old-aged sensorineural hearing impairment, Type II d...	ORPHA:926
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, Auto...	OMIM:615607
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Impaired T cell function, Perioral erythema, Hypogonadism, Decreased serum tes...	OMIM:201100
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis,...	ORPHA:79312
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea...	OMIM:612301
Pachydermoperiostosis	Limitation of joint mobility, Eczematoid dermatitis, Abnormal fingernail morphology, Osteomyeliti...	ORPHA:2796
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Glycogen Storage Disease V	Failure to elevate lactate upon ischemic exercise test, Dark urine, Hyperuricemia, Elevated circu...	OMIM:232600
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Poly...	OMIM:606812
Sézary Syndrome	Alopecia, Dry skin, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegaly, Abnormal immuno...	ORPHA:3162
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase co...	OMIM:613327
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Flexion contracture, Elevated circulating hepatic transaminase concentration, Hypoprote...	OMIM:608093
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointerstitial nep...	ORPHA:227990
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Hypercholesterole...	ORPHA:86816
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Classic Galactosemia	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Ascites, ...	ORPHA:79239
Somatostatinoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97283
Coccidioidomycosis	Hearing impairment, Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the bla...	ORPHA:228123
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Erythema, Alopecia, Failure to thrive, Recurrent skin infections, Nail dystrophy...	ORPHA:79396
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Postprandial hyperglycemia, Hepatitis, Cholestasis, Portal hypertensio...	ORPHA:440713
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Nephrocalcinosis, Hearing impairment, Pathologic fracture, Hyperphosphaturia, Knee fl...	OMIM:156400
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density, Sparse scalp hair, Abnormality of the kidney	ORPHA:2611
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activi...	OMIM:230350
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased cir...	ORPHA:343
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Immunodeficiency 53	Recurrent pneumonia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis medi...	OMIM:617585
Immune Thrombocytopenia	Thrombocytopenia, Platelet antibody positive	OMIM:188030
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615158
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Hearing impairment, Stage 5 chronic kidney d...	OMIM:618349
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Osteomalacia, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chroni...	ORPHA:534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Brittle hair, Splenomegaly, Sensorineural ...	OMIM:616084
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Low-set ears, Hearin...	OMIM:208085
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Specific Granule Deficiency 2	Low-set ears, Osteopenia, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Hirsuti...	OMIM:617475
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Immunodeficiency 44	Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin...	OMIM:616636
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Abnormal renal collecting system morphology, Hyperechogenic kidneys, Elbow flexion co...	OMIM:616809
Combined Oxidative Phosphorylation Deficiency 36	Aciduria, Low-set ears, Failure to thrive, Hypoglycemia, Premature skin wrinkling, Elevated circu...	OMIM:617950
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Pallor, Splenom...	OMIM:615234
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Autoimmune hypoparathyroidism, Antiphospholipid antibody positivity, Iridoc...	ORPHA:227982
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, T...	ORPHA:27
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hyperlip...	OMIM:232400
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolyti...	OMIM:616576
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Dent Disease	Delayed epiphyseal ossification, Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney ...	ORPHA:1652
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Alg1-Cdg	Hypoalbuminemia, Limitation of joint mobility, Decreased liver function, Renal insufficiency, Abn...	ORPHA:79327
Myasthenic Syndrome, Congenital, 16	Apnea	OMIM:614198
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Hearing impairment, Ascites, Failure to ...	ORPHA:858
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea...	ORPHA:859
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Facial erythema, Abnormality of the kidney, Increase...	ORPHA:284227
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Ascites, Renal insufficienc...	OMIM:276700
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Gene...	OMIM:215250
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal circulating in...	ORPHA:79124
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Decreased lecithin cho...	OMIM:245900
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Failure to thrive, Congenital sensorineural hearing impairment, Renal ...	OMIM:619147
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD...	ORPHA:572
Klippel-Trénaunay Syndrome	Microcytic anemia, Hepatomegaly, Hematuria, Ascites	ORPHA:90308
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Reduced circulating aldolase concentration, Renal insuff...	ORPHA:469
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated gamma-glutamyltransferase level, Pneumonia, Abnormality of the hepati...	ORPHA:247691
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Low anteri...	ORPHA:261222
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperosto...	OMIM:176920
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent hypoglycemia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Decrea...	ORPHA:293978
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious encepha...	ORPHA:319251
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Infantile Sialic Acid Storage Disease	Osteopenia, Nephrotic syndrome, Fair hair, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly...	OMIM:269920
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia, Failure to thrive, Hypoglycemia	OMIM:610090
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, A...	ORPHA:760
Bone Marrow Failure Syndrome 4	Low-set ears, Bone marrow hypocellularity, Eczematoid dermatitis, Dry skin, Leukopenia, Thrombocy...	OMIM:618116
Oculoskeletodental Syndrome	Conductive hearing impairment, Hearing impairment, Hypocalcemia, Sensorineural hearing impairment...	ORPHA:557003
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Methylmalonic aciduria, Failure to thrive, Decreased circulating...	OMIM:275350
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Hearing impairment, Osteomyelitis, Hypocalcemia, Abnormal leukocyte mor...	ORPHA:53
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Sensorine...	OMIM:155100
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Leukopenia, Stage 5 chronic kidney disea...	OMIM:251000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Sensorineural hearing impairment, Radioulnar synostosis, Amegakaryocytic thrombocytopenia	ORPHA:71289
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic...	ORPHA:99827
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Underdeveloped superior crus of antihelix, Insulin-resistant diabetes mell...	ORPHA:293967
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Glycosuria, Transi...	OMIM:229600
Congenital Disorder Of Glycosylation, Type Iir	Low-set ears, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, De...	OMIM:301045
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Myel...	ORPHA:98849
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatomegaly, Sparse hair, Hypolysinemia, Aminoaciduria, Hyperlysinuria, Anemia...	OMIM:222700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase co...	OMIM:608836
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, E...	ORPHA:39812
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	ORPHA:42
Thrombocytopenia 3	Decreased mean platelet volume, Petechiae, Thrombocytopenia	OMIM:273900
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Pearson Marrow-Pancreas Syndrome	Erythema, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Hepatomegaly, 3-Me...	OMIM:557000
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Low-set ears, Hypochromic anemia	OMIM:618451
Thrombocytopenia 10	Decreased mean platelet volume, Petechiae, Thrombocytopenia	OMIM:620484
Angiostrongyliasis	Pruritus, Stiff neck, Hypereosinophilia, Increased circulating specific IgE antibody, Increased c...	ORPHA:74
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Sideroblastic anemia,...	OMIM:613561
Squalene Synthase Deficiency	Low-set ears, Elevated urine mesaconic acid level, Elbow flexion contracture, Hypocholesterolemia...	OMIM:618156
Bleeding Disorder, Platelet-Type, 21	Alopecia, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregati...	OMIM:617443
Methylmalonic Aciduria, Cblb Type	Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Elevated circulat...	OMIM:251110
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia, Sensorineural hearing impairment, Hyperprolin...	OMIM:619046
Immunodeficiency, Common Variable, 11	Abnormal T cell count, Decreased proportion of class-switched memory B cells, Failure to thrive	OMIM:615767
Dyskeratosis Congenita	Periodontitis, Hearing impairment, White hair, Premature graying of hair, Displacement of the ure...	ORPHA:1775
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Mirage Syndrome	Hypospadias, Microphallus, Aspiration pneumonia, Radial club hand, Lymphopenia, Leukopenia, Adren...	OMIM:617053
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar...	OMIM:614699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Hearing impairment, Abnormality of exocrine pancreas physiology, He...	ORPHA:93111
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Central hypoventilation	OMIM:619483
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased response to growth hormone stimula...	OMIM:618347
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Throm...	ORPHA:289916
Paget Disease Of Bone 2, Early-Onset	Bilateral conductive hearing impairment, Fractures of the long bones, Hydroxyprolinuria, Sclerosi...	OMIM:602080
Transaldolase Deficiency	Premature skin wrinkling, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Incre...	ORPHA:101028
Hypophosphatasia, Childhood	Phosphoethanolaminuria, Elevated plasma pyrophosphate, Low alkaline phosphatase, Elevated urine p...	OMIM:241510
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Impaired platelet aggregatio...	OMIM:187800
Pontocerebellar Hypoplasia Type 4	Central apnea	ORPHA:166063
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Failure to thrive, Decreased methionin...	OMIM:236270
Congenital Myopathy 14	Apnea, Death in infancy	OMIM:618414
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Lesch-Nyhan Syndrome	Nephrocalcinosis, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia,...	OMIM:300322
Tick-Borne Encephalitis	Myelitis, Elevated circulating hepatic transaminase concentration, Hearing impairment, Stiff neck...	ORPHA:297
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevate...	OMIM:277380
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Chondritis, Joint stiffness, Thickened cortex of bones, Arthritis	ORPHA:564003
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur...	ORPHA:499
Ravine Syndrome	Apnea	ORPHA:99852
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Low-set ears, Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Decreased circul...	OMIM:613385
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Low-set ears, Reduced natural killer cell count, Failure to thrive, Decreased circulat...	OMIM:242860
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Cockayne Syndrome	Dry hair, Absence of pubertal development, Cachexia, Urinary incontinence, Hepatomegaly, Nephroti...	ORPHA:191
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Death in infancy	OMIM:616277
Babesiosis	Hepatic failure, Limitation of joint mobility, Leukopenia, Renal insufficiency, Splenomegaly, Thr...	ORPHA:108
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Porphyria, Congenital Erythropoietic	Osteopenia, Alopecia, Joint contracture of the hand, Cholelithiasis, Conjunctivitis, Hypertrichos...	OMIM:263700
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Pruritus, Increased proportion of CD25+ mast cells, ...	ORPHA:98848
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Free Sialic Acid Storage Disease	Skin ulcer, Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Hepatomegaly, Nephr...	ORPHA:834
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Pathologic...	ORPHA:905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop...	OMIM:235400
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Papillary r...	OMIM:145001
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Elevated circulating creatine kinase conc...	OMIM:615704
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Adult-Onset Still Disease	Erythema, Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concen...	ORPHA:829
Hamamy Syndrome	Low-set ears, Osteopenia, Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Abnormal nu...	OMIM:611174
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased circulating lac...	OMIM:261000
S-Adenosylhomocysteine Hydrolase Deficiency	Hypermethioninemia, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Fai...	ORPHA:88618
Maternal Uniparental Disomy Of Chromosome 1	Type I diabetes mellitus, Hearing impairment, Failure to thrive, Panhypogammaglobulinemia, Pancyt...	ORPHA:251009
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Elevated circulating alkal...	ORPHA:275761
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Mixed Connective Tissue Disease	Nephropathy, Alopecia, Mediastinal lymphadenopathy, Leukopenia, Joint stiffness, Autoimmunity, Sp...	ORPHA:809
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Abnorma...	OMIM:614886
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G...	ORPHA:2790
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Abnormal blood ion concentra...	ORPHA:810
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Increased phosphoribosylpyrophosphate synthetase level, Gout, Renal insuffic...	ORPHA:411543
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Low-set ears, Duplicated collecting system, Hypospadias, Elevated circulating hepatic transaminas...	OMIM:301056
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome	OMIM:614652
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Isolated Growth Hormone Deficiency, Type Ia	Prolonged neonatal jaundice, Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced ...	OMIM:262400
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Excessive in...	ORPHA:276556
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Elevated circulating hepatic...	ORPHA:210136
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Sensorineura...	ORPHA:3416
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ...	ORPHA:529799
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Osteomalacia, Multiple small medullary renal cysts, Renal insuffi...	OMIM:600740
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Weight lo...	ORPHA:49041
Developmental And Epileptic Encephalopathy 61	Apnea	OMIM:617933
Cryoglobulinemic Vasculitis	Skin ulcer, Abnormality of the liver, Renal insufficiency, Splenomegaly, Petechiae, Cryoglobuline...	ORPHA:91138
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Increased circulating IgE level, Psoriasiform dermatitis, Rec...	OMIM:615508
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Neut...	ORPHA:1830
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Dry skin, Leuk...	OMIM:620184
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Increa...	OMIM:231100
Congenital Disorder Of Glycosylation, Type Iig	Low-set ears, Osteopenia, Giant platelets, Conductive hearing impairment, Failure to thrive in in...	OMIM:611209
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat...	OMIM:127550
Sclerosteosis	Craniofacial hyperostosis, Fingernail dysplasia, Abnormal cortical bone morphology, Sensorineural...	ORPHA:3152
Yellow Fever	Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating aspartate aminotransfer...	ORPHA:99829
Phosphoribosylpyrophosphate Synthetase Superactivity	Low-set ears, Increased phosphoribosylpyrophosphate synthetase level, Hearing impairment, Urolith...	OMIM:300661
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Elevated circulating parathyroid hormone ...	OMIM:122860
Bone Marrow Failure Syndrome 3	Aplastic anemia, Small nail, Hearing impairment, Persistence of hemoglobin F, Pancytopenia, Acute...	OMIM:617052
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ...	ORPHA:79301
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Elevated circulating...	OMIM:620005
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Beckwith-Wiedemann Syndrome	Nephropathy, Hearing impairment, Abnormal earlobe morphology, Hepatoblastoma, Hepatomegaly, Neona...	ORPHA:116
Barth Syndrome	Fair hair, Elevated monolysocardiolipin/cardiolipin ratio, Failure to thrive, Cyclic neutropenia,...	OMIM:302060
Congenital Lethal Erythroderma	Hypoalbuminemia, Dry skin, Congenital exfoliative erythroderma, Failure to thrive	ORPHA:1954
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	OMIM:246900
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Hyperuri...	OMIM:162000
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Cinca Syndrome	Abnormality of thrombocytes, Hearing impairment, Leukocytosis, Splenomegaly, Sensorineural hearin...	ORPHA:1451
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Petechiae, Sens...	ORPHA:294
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Rickets, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, ...	OMIM:611590
L-Ferritin Deficiency	Alopecia, Decreased circulating ferritin concentration	OMIM:615604
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia, Sensorineural hearing impairment	ORPHA:3222
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Increased phosphoribosylpyrophosphate synthetase level, Stage 4 chronic kidn...	ORPHA:411536
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induc...	OMIM:619271
Lathosterolosis	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating lathoste...	OMIM:607330
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci...	ORPHA:2688
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Eczematoid dermatitis, Skin ulcer, Abnormal hair morphology, Increased circulating Ig...	ORPHA:2314
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, ...	OMIM:611490
Oncogenic Osteomalacia	Renal phosphate wasting, Pathologic fracture, Increased susceptibility to fractures, Fibrous dysp...	ORPHA:352540
Mitochondrial Complex I Deficiency, Nuclear Type 4	Apnea, Death in childhood	OMIM:618225
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
B4Galt1-Cdg	Low-set ears, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase con...	ORPHA:79332
Propionic Acidemia	Organic aciduria, Hypoglycemia, Propionyl-CoA carboxylase deficiency, Hyperammonemia, Hepatomegaly	ORPHA:35
Blue Rubber Bleb Nevus	Microcytic anemia, Skin rash	ORPHA:1059
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Rheumatoid arthritis, Acute kidney injury, Sulfite oxidase...	ORPHA:3467
Aicardi-Goutieres Syndrome 4	Low-set ears, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancyt...	OMIM:610333
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Neonatal death	OMIM:610127
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Sple...	OMIM:613489
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Proximal renal tubular acidosis, Hepatomegaly, Elliptocytosis, Secondary hyperparat...	ORPHA:2785
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea	OMIM:618236
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Horizontal eyebrow, Hearing impairment, Long eyelashes, Broad eyebrow, Thr...	OMIM:620475
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen...	OMIM:615160
Combined Malonic And Methylmalonic Acidemia	Elevated circulating hepatic transaminase concentration, Methylmalonic aciduria, Failure to thriv...	ORPHA:289504
2P21 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Hypocalcemia	ORPHA:163693
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv...	OMIM:613812
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Hypopituitarism, Cholestasis, Xanthelasma, Elevated cir...	ORPHA:30391
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat...	OMIM:601847
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Failure to thrive,...	OMIM:230400
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Decreased ci...	OMIM:300988
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Organic aciduria, Hypoglycemia	OMIM:614741
Mitochondrial Complex I Deficiency, Nuclear Type 13	Apnea, Death in infancy	OMIM:618235
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Conductive hearing impairment, El...	ORPHA:276621
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Long eyelashes, Leukopenia, Elevated circulating creatinine ...	OMIM:301110
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri...	OMIM:614034
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Microangi...	ORPHA:90038
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa...	ORPHA:189427
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro...	ORPHA:314811
Enterokinase Deficiency	Hypoproteinemia, Failure to thrive	OMIM:226200
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Hypobetalipoproteinemia, Familial, 1	Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi...	OMIM:615558
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M...	ORPHA:79078
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Glucose intolerance, Pallor, Splenomegal...	ORPHA:75563
Congenital Syphilis	Hearing impairment, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Nephrotic syndro...	ORPHA:499009
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc...	ORPHA:26792
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Ck Syndrome	Slender build, Posteriorly rotated ears, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity	OMIM:609529
Kawasaki Disease	Hypoalbuminemia, Abnormality of nail color, Hepatitis, Conjunctivitis, Sterile pyuria, Cervical l...	ORPHA:2331
Stuve-Wiedemann Syndrome 2	Respiratory distress, Intrauterine growth retardation, Neonatal death, Death in adolescence, Stil...	OMIM:619751
Severe Neonatal-Onset Encephalopathy With Microcephaly	Apnea	ORPHA:209370
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, Recurrent sinusitis, B...	ORPHA:217390
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypoparathyroidism, Hypocalcemia, Thickened cortex of long bones, Transient hy...	OMIM:127000
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Increased circulating ferritin concentration, Absent brainstem auditory respon...	ORPHA:3240
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetan...	ORPHA:36913
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Autoimmunity, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Cartilage-Hair Hypoplasia	Sparse eyebrow, Failure to thrive, Macrotia, Low-set, posteriorly rotated ears, Decreased circula...	ORPHA:175
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Hyposegmentati...	OMIM:169400
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Neonatal cholestati...	ORPHA:1414
Sepsis In Premature Infants	Oliguria, Decreased liver function, Leukocytosis, Splenomegaly, Reversible renal failure, Decreas...	ORPHA:90051
Congenital Glucokinase-Related Hyperinsulinism	Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Prolidase Deficiency	Erythema, Hearing impairment, Skin ulcer, Abnormal fingernail morphology, Dry skin, White foreloc...	ORPHA:742
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Hepatomegaly, Elevat...	ORPHA:50918
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Sensorineural he...	ORPHA:3226
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Hearing impairment, Abnormal fingernail morphology, Fingernail dyspl...	ORPHA:2325
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Cryptorchidism	OMIM:616910
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Hepatomegal...	OMIM:606069
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Fail...	ORPHA:83471
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Cirrhosis, Hepatomegaly, Bilateral sensorineural hearing impairment, Neonatal ...	OMIM:619418
Immunodeficiency 46	Conjunctivitis, Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia, Decreased ...	OMIM:616740
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Failure to thrive, Clavicular sclerosis, Elevated circulating alk...	OMIM:615198
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenomegaly, Hyp...	ORPHA:2930
Castleman Disease	Mediastinal lymphadenopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, H...	ORPHA:160
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Osteopenia, Coarse hair, Elevated circulating thyroid-stimula...	OMIM:242900
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Colchicine Poisoning	Alopecia, Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia,...	ORPHA:31824
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin...	ORPHA:79096
Monosomy 13Q34	Insulin resistance, Horizontal eyebrow, Abnormal earlobe morphology, Obesity, Hepatic steatosis, ...	ORPHA:96168
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Apneic episodes in infancy	ORPHA:500545
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Skin rash, Sensorineural hearing impairment, Hepatomegaly...	ORPHA:290
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Renal phosphate wa...	ORPHA:289176
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Small for gestational age, Imbalanced he...	ORPHA:330015
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A...	ORPHA:96180
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Organic aciduria, Hyperammonemia, Keratoconjunc...	ORPHA:79242
Mody	Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva...	ORPHA:552
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Von Willebrand Disease	Abnormality of thrombocytes, Microcytic anemia, Petechiae, Thrombocytopenia, Joint hemorrhage, Ab...	ORPHA:903
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Neonatal hyperbilirubinemia, Decreased response to growth hormone stimulation test, Hyp...	ORPHA:3363
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Congenital Disorder Of Glycosylation, Type Iit	Low-set ears, Urinary incontinence, Hypotriglyceridemia, Conductive hearing impairment, Iron defi...	OMIM:618885
Familial Expansile Osteolysis	Conductive hearing impairment, Hydroxyprolinuria, Pathologic fracture, Elevated circulating alkal...	OMIM:174810
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly	ORPHA:664
Surfactant Metabolism Dysfunction, Pulmonary, 1	Apnea, Death in infancy, Neonatal death, Tachypnea, Dyspnea	OMIM:265120
Agammaglobulinemia, X-Linked	Hearing impairment, Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epid...	OMIM:300755
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo...	ORPHA:90003
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin, Ascites, Elevated circulating alkaline phosphatase concentration, Rena...	OMIM:174050
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos...	OMIM:616730
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia, Hypospadias, Hearing impairment	OMIM:618972
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Gout, Renal insu...	ORPHA:79233
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag...	OMIM:602450
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin...	OMIM:614857
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Benign Familial Neonatal Epilepsy	Apnea	ORPHA:1949
Leigh Syndrome	3-Methylglutaconic aciduria, Sensorineural hearing impairment, Neutropenia, Nephrotic syndrome, M...	ORPHA:506
Combined Oxidative Phosphorylation Deficiency 40	Hearing impairment, Decreased liver function, Hypoglycemia, Elevated circulating creatine kinase ...	OMIM:618835
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Progressive sensorineural hearing impairment, Iron deficiency anemia, Thrombocytopenia, Neutropen...	ORPHA:494444
Benign Familial Neonatal-Infantile Seizures	Apnea	ORPHA:140927
Alg8-Cdg	Low-set ears, Elevated circulating hepatic transaminase concentration, Failure to thrive, Prematu...	ORPHA:79325
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Recurren...	OMIM:212140
Erythrocytosis, Familial, 4	Elevated circulating erythropoietin concentration, Polycythemia, Increased hematocrit, Increased ...	OMIM:611783
Erythroderma, Lethal Congenital	Hypoalbuminemia, Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Extraadrenal pheochromocytoma, Conductive hearing impairment, El...	ORPHA:29072
Overlap Myositis	Rheumatoid arthritis, Elevated circulating hepatic transaminase concentration, Abnormal circulati...	ORPHA:206572
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Combined Oxidative Phosphorylation Deficiency 42	Hearing impairment, Decreased liver function, Hypoglycemia, Elevated circulating creatine kinase ...	OMIM:618839
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Arteritis, Acne inversa, Herpes simplex encephalitis, Hypoglycemia, Recur...	OMIM:233600
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Congenital Disorder Of Glycosylation, Type Iie	Low-set ears, Failure to thrive, Decreased liver function, Hypertrichosis, Hypoglycemia, Elevated...	OMIM:608779
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Chronic kidney disease, Focal segmental glome...	ORPHA:656
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po...	ORPHA:284
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Methylmalonic aciduria, Failure to thrive, Decreased methionine synthase activity...	OMIM:250940
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Ascites, Decreased circulating IgA level, Aut...	OMIM:615758
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Joubert Syndrome 33	Apnea	OMIM:617767
Subacute Inflammatory Demyelinating Polyneuropathy	Limited elbow flexion, Limited hip movement, Limitation of movement at ankles, Leukocytosis, Incr...	ORPHA:206594
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Hyperostosis, Elevated circulating alka...	OMIM:211900
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Low-set ears, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:618183
Ogden Syndrome	Low-set ears, Facial wrinkling, Recurrent otitis media, Hyperbilirubinemia, Jaundice, Macrovesicu...	OMIM:300855
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Large for gestational age,...	OMIM:600501
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Increased circulating IgE level,...	OMIM:618523
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Osteogenesis Imperfecta, Type Xxii	Hearing impairment, Abnormal blood phosphate concentration, Decreased circulating osteocalcin lev...	OMIM:619795
Parathyroid Carcinoma	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Renal ha...	ORPHA:143
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Abnormality of alkaline phosphatase level, Elevated circulating aspartate aminotransferase concen...	OMIM:620375
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Sensorineural hearing impairment	OMIM:221400
Multiple Endocrine Neoplasia Type 4	Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:276152
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Dry skin, Chronic hepatitis, Decreased proportion of CD4-positive helper ...	ORPHA:289390
Bloom Syndrome	Decreased circulating IgG level, Small for gestational age, Leukemia, Hypertrichosis, Decreased c...	OMIM:210900
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:567983
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D...	ORPHA:26791
Ollier Disease	Precocious puberty, Skin ulcer, Joint stiffness, Anemia, Lymphangioma, Osteolysis	ORPHA:296
Papa Syndrome	Type I diabetes mellitus, Limitation of joint mobility, Skin ulcer, Increased circulating antibod...	ORPHA:69126
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter...	ORPHA:391487
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Hyp...	OMIM:615577
Plummer-Vinson Syndrome	Pallor, Decreased circulating ferritin concentration, Iron deficiency anemia, Hypochromic microcy...	ORPHA:54028
Mogs-Cdg	Decreased circulating IgG level, Alopecia, Fair hair, Long eyelashes, Decreased circulating IgA l...	ORPHA:79330
Raine Syndrome	Low-set ears, Highly arched eyebrow, Hydroureter, Elevated circulating alkaline phosphatase conce...	OMIM:259775
Down Syndrome	Conductive hearing impairment, Polycythemia, Obesity, Type II diabetes mellitus, Acute megakaryoc...	ORPHA:870
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Keratitis, Failure to th...	ORPHA:525731
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi...	OMIM:619662
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Methylmalonic aciduria, Hearing impairment, Failure to thrive, Hypoglycemia, Elevated circulating...	OMIM:245400
Rosaï-Dorfman Disease	Erythema, Dysgammaglobulinemia, Lymphadenopathy, Anemia, Osteolysis	ORPHA:158014
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Conge...	ORPHA:480520
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Iron deficiency anemia, Elevated circulating hepatic transaminase concentration, ...	OMIM:300752
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho...	ORPHA:94089
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Hearing impairment, Renal insufficien...	ORPHA:33226
Primary Familial Polycythemia	Pruritus, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu...	OMIM:614817
Erythrokeratodermia Variabilis	Erythema, Alopecia, Hearing impairment, Abnormal hair morphology, Dry skin, Skin rash, Generalize...	ORPHA:317
Porphyria Cutanea Tarda	Alopecia, Facial hypertrichosis, Porphyrinuria, Onycholysis, Cirrhosis, Reduced uroporphyrinogen ...	OMIM:176100
Flynn-Aird Syndrome	Alopecia, Progressive sensorineural hearing impairment, Joint stiffness, Increased bone density w...	OMIM:136300
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Elevated circulating phytanic acid concentration, Epiphyseal stippling, Calcific stippl...	OMIM:215100
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Sheehan Syndrome	Dry skin, Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estrad...	ORPHA:91355
Combined Oxidative Phosphorylation Deficiency 47	Low-set ears, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypogly...	OMIM:618958
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper...	OMIM:619111
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Alopecia, Osteopenia, Aplastic anemia, Hearing impairment, Fine hair...	OMIM:613990
Zollinger-Ellison Syndrome	Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:913
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi...	OMIM:619858
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Petechiae, Impaired coll...	OMIM:153670
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Osteomalacia, Autoimmuni...	ORPHA:405
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Failure to thrive, Hepatosplenomegaly, Pallor, Cardiomegaly, ...	ORPHA:99931
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Genetic Recurrent Myoglobinuria	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:99845
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Aspiration pneumonia, Hyperammonemia, Neutropenia, Spars...	OMIM:618253
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat...	ORPHA:882
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis	OMIM:137280
Pontocerebellar Hypoplasia, Type 6	Apnea, Death in childhood	OMIM:611523
Ring Chromosome 10 Syndrome	Low-set ears, Abnormal antihelix morphology, Hypocalcemia, Large earlobe	ORPHA:1438
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Abnormality of alkaline phosphatase level, Sparse lateral eyebrow, Fine hair, Ivory e...	OMIM:190350
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse axillary hair, Pruritus, Sparse scalp hair	ORPHA:505
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Low-set ears, Decreased circulating IgA level, B lymp...	OMIM:614069
Leukocyte Adhesion Deficiency, Type Iii	Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepato...	OMIM:612840
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased mean corpuscular volume,...	OMIM:619774
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Elevated gamma-glutamyltransferase level, Abnormal helix morphology, Small nail, He...	OMIM:614866
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Low-set ears, Conductiv...	OMIM:235510
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Apnea	OMIM:617290
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Recurrent ap...	ORPHA:275
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Hepatosp...	ORPHA:353298
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hearing impairment, Fai...	OMIM:610965
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Joubert Syndrome 9	Episodic tachypnea, Apnea	OMIM:612285
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Urinary bladder sphincter dysfunction, Pathologic fracture, Increased susceptibility to fractures...	ORPHA:52430
Cinca Syndrome	Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi...	OMIM:607115
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Low-set ears, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Macrotia, Met...	OMIM:277400
Biotinidase Deficiency	Alopecia, Organic aciduria, Skin rash, Splenomegaly, Hyperammonemia, Sensorineural hearing impair...	OMIM:253260
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa...	OMIM:259710
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamartoma, Pancreatic ade...	ORPHA:99880
Gorham-Stout Disease	Osteopenia, Hearing impairment, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnorm...	ORPHA:73
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Decreased circulating nicotinamide adenine dinucleotide-cytochro...	OMIM:250800
Hennekam Syndrome	Low-set ears, Conductive hearing impairment, Erysipelas, Camptodactyly of finger, Horseshoe kidne...	ORPHA:2136
Transaldolase Deficiency	Low-set ears, Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thri...	OMIM:606003
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Dry skin, Chilblains, Thrombocytopenia, Sca...	OMIM:612952
X-Linked Hypophosphatemia	Renal phosphate wasting, Hypocalciuria, Rickets, Limitation of joint mobility, Elevated circulati...	ORPHA:89936
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Potocki-Lupski Syndrome	Hearing impairment, Failure to thrive, Hypocholesterolemia, Abnormal renal morphology, Hypothyroi...	OMIM:610883
Biliary, Renal, Neurologic, And Skeletal Syndrome	Low-set ears, Elevated gamma-glutamyltransferase level, Dilatation of the renal pelvis, Hearing i...	OMIM:619534
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Hearing impairment, Elevated circulating creatinine concentration, Lef...	OMIM:616733
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin...	OMIM:613095
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia	ORPHA:314802
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Sensorineural hearing impai...	OMIM:611762
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Cirrhosis, Weight loss, Hepatomegaly, Hypogonadotropic hypogonadism, Chronic hepat...	ORPHA:465508
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Methylmalonic Aciduria, Cbla Type	Ketonuria, Decreased methylmalonyl-CoA mutase activity, Methylmalonic aciduria, Failure to thrive...	OMIM:251100
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Abnormal concentration of acylcarnitine in...	ORPHA:51208
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circ...	ORPHA:97278
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ...	OMIM:261680
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri...	OMIM:254900
Myoclonus, Intractable, Neonatal	Apnea	OMIM:617235
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:71212
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Prelingual sensorineural hearing impairment, Fai...	ORPHA:73272
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
2Q24 Microdeletion Syndrome	Central apnea	ORPHA:1617
Portal Hypertension, Noncirrhotic, 2	Elevated gamma-glutamyltransferase level, Nodular regenerative hyperplasia of liver, Elevated cir...	OMIM:619463
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Failure to thrive, Macrotia, Decreased response to growth hormone stimulati...	OMIM:606407
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Dystrophic toenail, Abnormal cortical bone morphology, Dystrophic fingernail...	ORPHA:970
Necrobiosis Lipoidica	Erythema, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, ...	ORPHA:542592
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Low-set ears, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Anti-centromere antibody positivity, Bil...	OMIM:613471
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation	OMIM:300673
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity...	ORPHA:2902
Familial Osteodysplasia, Anderson Type	Abnormal earlobe morphology, Large earlobe, Thick eyebrow, Abnormal cortical bone morphology, Inc...	ORPHA:2769
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Periodontitis, Hearing impairment, Sparse body hair, Abnormal eyelash morph...	ORPHA:1008
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly,...	ORPHA:391
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Sensorineural hearing impairment, Hydronephrosis, Megaloblasti...	OMIM:598500
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast...	OMIM:229100
Intrahepatic Cholestasis Of Pregnancy	Pruritus on foot, Abnormal circulating interleukin concentration, Elevated circulating hepatic tr...	ORPHA:69665
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali...	ORPHA:417
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Conductive hearing impairment, Atresia of the external auditor...	OMIM:300946
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimm...	OMIM:615387
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Skin rash, Thrombocytopenia, Pyoderma gangrenosum, Elevated cir...	ORPHA:49566
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Congenital sensorineural hearing impa...	OMIM:606528
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Weight loss, Elevated circulating C-reactive pro...	ORPHA:91500
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Alopecia, Rickets, Elevated circulating parathyroid hormone leve...	OMIM:600785
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegal...	OMIM:618838
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:617907
Dubowitz Syndrome	Low-set ears, Decreased circulating IgG level, Aplastic anemia, Sparse lateral eyebrow, Eczematoi...	OMIM:223370
Grfoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Weight loss,...	ORPHA:97261
Chronic Visceral Acid Sphingomyelinase Deficiency	Systemic lupus erythematosus, Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis, ...	ORPHA:77293
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Renal insufficiency, Hyperammonemia, Hepatomegaly, Anemia	ORPHA:28
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Recurrent fractures, Elevated circulating alkaline phosphatase concentration, Increased spinal bo...	ORPHA:329475
Cholesteryl Ester Storage Disease	Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl...	ORPHA:75234
Solitary Fibrous Tumor	Urinary retention, Hypoglycemia, Pelvic mass, Recurrent hypoglycemia, Hypophosphatemic rickets, N...	ORPHA:2126
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnorm...	ORPHA:98907
Mehmo Syndrome	Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Obesity, ...	OMIM:300148
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, Psor...	ORPHA:221139
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:324964
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Combined Oxidative Phosphorylation Deficiency 57	Neonatal death, Apnea, Death in infancy, Central hypoventilation	OMIM:620167
Glycosylphosphatidylinositol Biosynthesis Defect 17	Abnormality of alkaline phosphatase level, Osteomyelitis, Dry skin, Hypertriglyceridemia, Chronic...	OMIM:618010
Lassa Fever	Oliguria, Hearing impairment, Jaundice, Conjunctivitis, Increased circulating IgM level	ORPHA:99824
Smith-Lemli-Opitz Syndrome	Low-set ears, Hearing impairment, Recurrent otitis media, Hepatic steatosis, Cirrhosis, Duplicate...	OMIM:270400
Monosomy 22	Contractures of the large joints, Low-set, posteriorly rotated ears, Hepatosplenomegaly, Aplasia ...	ORPHA:96123
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Ab...	OMIM:612852
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Failure to thrive, Premature gray...	OMIM:613989
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypogonadism, Hypocalcemic tet...	OMIM:103580
Infantile Nephropathic Cystinosis	Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Abnormal...	ORPHA:411629
Hermansky-Pudlak Syndrome 2	Low-set ears, Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged pla...	OMIM:608233
Benign Familial Infantile Epilepsy	Apnea	ORPHA:306
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Per...	OMIM:260400
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Joint hemorrhage, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Multiple Endocrine Neoplasia Type 2	Elevated urinary vanillylmandelic acid, Elevated urinary catecholamine level, Parathyroid adenoma...	ORPHA:653
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Congenital hypoparathyroidism, Calvar...	OMIM:244460
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Oliver-Mcfarlane Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Hypogonadotropic...	OMIM:275400
Takenouchi-Kosaki Syndrome	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Unilateral renal agenesis, Sensorineural hea...	OMIM:616737
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Nephrotic syndrome, Lymphad...	ORPHA:911
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Trichohepatoneurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Elevated circulating alkaline phosphatase concentration, In...	OMIM:618268
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Decreased beta-galactos...	OMIM:230600
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	High anterior hairline, Sparse lateral eyebrow, Elevated circulating alkaline phosphatase concent...	OMIM:618879
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Dry skin, Chronic noninfectious lymphadenopathy, Nail dy...	ORPHA:31150
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ...	ORPHA:2635
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinus...	ORPHA:33110
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Elevated circulating hepatic transam...	OMIM:212138
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Smith-Kingsmore Syndrome	Hypoglycemia, Decreased circulating IgA level, Large for gestational age, Thrombocytopenia, Curly...	OMIM:616638
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Supernumerary nipple, Elevated circulating creatinine concentration, Stage 5 ch...	OMIM:614376
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Impaired...	OMIM:301068
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Increased circulating antibody...	ORPHA:77261
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Small for gestational age, Failure to thriv...	OMIM:607143
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Weismann-Netter Syndrome	Anemia, Abnormality of the thyroid gland, Abnormal cortical bone morphology	ORPHA:3344
Congenital Disorder Of Glycosylation, Type Ii	Low-set ears, Joint hypermobility, Sensorineural hearing impairment, Decreased body weight, Hypot...	OMIM:607906
Glutamine Deficiency, Congenital	Apnea, Neonatal death	OMIM:610015
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Renal tub...	ORPHA:156
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen...	OMIM:616834
Neuroblastoma	Elevated circulating catecholamine level, Increased circulating lactate dehydrogenase concentrati...	ORPHA:635
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Bronchopulmonary Dysplasia	Respiratory distress, Dyspnea, Central apnea	ORPHA:70589
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph...	OMIM:104200
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Small for gestational age, Dry skin, Tiger tail banding, Slow-growing h...	OMIM:616943
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Failur...	ORPHA:100
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Abnormal ha...	OMIM:208900
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Leptospirosis	Uveitis, Acute kidney injury, Hepatitis, Skin rash, Elevated serum transaminases during infection...	ORPHA:509
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Alopecia, Sparse eyebrow, Hepatic failure, Pruritus, Cholestasis, Dry skin, Por...	OMIM:607626
Japanese Encephalitis	Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Infectious encephali...	ORPHA:79139
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Hyperostosis, Seborrheic dermatitis, Periostosis, Acne	OMIM:614441
Galactose Epimerase Deficiency	Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice	ORPHA:79238
Pseudo-Torch Syndrome 1	Low-set ears, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreas...	OMIM:251290
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenom...	OMIM:615952
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Juvenile Polyposis Syndrome	Low-set ears, Brain abscess, Failure to thrive, Hepatic arteriovenous malformation, Anemia, Extra...	ORPHA:2929
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Skin ulcer, Abnormal erythrocyte mor...	ORPHA:288
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia, Congenital sensorineural hearing impairment, Abnormal erythrocyte enzyme concentrat...	ORPHA:1187
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Protoporphyria, Erythropoietic, 1	Erythema, Hepatic failure, Cholelithiasis, Eczematoid dermatitis, Hypertriglyceridemia, Pruritus,...	OMIM:177000
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea	ORPHA:320385
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Failure to thrive, Splenomegaly, Lipogranulomatosis, Decr...	OMIM:228000
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Abnormal circulating chemokine concentration, Acute kidney injury, Anuria, Pallor, ...	ORPHA:544482
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Systemic Lupus Erythematosus	Anti-Sm antibody positivity, Hematuria, Decreased circulating complement C4 concentration, Weight...	ORPHA:536
Immunodeficiency 31C	Osteopenia, Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Ch...	OMIM:614162
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hyperammonemia, Hypoglycemia, Microtia	OMIM:620137
Griscelli Syndrome Type 2	Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Petechia...	ORPHA:79477
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hypoglycemia, Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis	OMIM:261650
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Sensorineural hear...	OMIM:249270
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Alopecia, Insulin-resistant diabetes mellitus, Elbow flexion contracture, Progressive...	OMIM:248370
Mitochondrial Complex I Deficiency, Nuclear Type 6	Apnea	OMIM:618228
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Osteopenia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lympho...	ORPHA:486
Erythrocytosis, Familial, 2	Elevated circulating erythropoietin concentration, Failure to thrive, Increased hematocrit, Incre...	OMIM:263400
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Skin ...	OMIM:253270
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Low-set ears, Patchy osteosclerosis, Hyperphosphatemia, Decreased response to growth hormone stim...	OMIM:241410
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, C...	OMIM:616744
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Pyruvate Carboxylase Deficiency	Hypoglycemia, Hyperalaninemia, Proximal renal tubular acidosis, Hepatomegaly, Increased serum pyr...	OMIM:266150
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem...	OMIM:603860
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Skin ulcer, Microangiopathic hemolytic anemia, Systemic ...	ORPHA:464343
Macrocephaly/Autism Syndrome	Coarse hair, Recurrent otitis media, Lymphopenia, Obesity, Penile freckling, Large for gestationa...	OMIM:605309
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Tympanosclerosis, Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Female hypogonadism, A...	OMIM:240300
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Hyperammonemia, Abnormal circulatin...	ORPHA:6
Hyperuricemia, Hprt-Related	Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea	OMIM:615031
Adenohypophysitis	Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr...	ORPHA:95512
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hearing impairment, Hypoglycemia	OMIM:223500
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Elevated alkaline phosphatase of bone origin, Increased urinary type 1 collagen N-ter...	OMIM:615923
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea	ORPHA:71277
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Sparse eyebrow, Small for gestational age, Aplas...	ORPHA:2909
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Myasthenic Syndrome, Congenital, 24, Presynaptic	Apnea	OMIM:618198
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Slc35A1-Cdg	Pneumonia, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Citrullinemia, Type Ii, Adult-Onset	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Portal inflammation, Ballooning hepat...	OMIM:603471
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric...	OMIM:231680
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Sensor...	ORPHA:95513
Wolman Disease	Reduced lysosomal acid lipase activity, Failure to thrive, Adrenal calcification, Acute hepatic f...	OMIM:620151
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Pr...	OMIM:620367
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Type I diabetes mellitus, Premature graying of hair, Lymphopenia, Portal hypertension...	OMIM:620365
Molybdenum Cofactor Deficiency, Type A	Hypouricemia, Decreased urinary urate, Increased urinary taurine, Sulfite oxidase deficiency, Ald...	OMIM:252150
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Hypocholesterolemia, Micropenis, Brittle hair, Hepatomegaly	OMIM:618810
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Flynn-Aird Syndrome	Alopecia, Progressive sensorineural hearing impairment, Skin ulcer, Joint stiffness, Primary adre...	ORPHA:2047
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c...	OMIM:201450
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy	OMIM:610006
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ...	ORPHA:79147
Muckle-Wells Syndrome	Nephropathy, Nephrotic syndrome, Renal amyloidosis, Progressive sensorineural hearing impairment,...	ORPHA:575
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume...	OMIM:620044
Congenital Left Ventricular Aneurysm	Apnea	ORPHA:1055
Leukodystrophy, Hypomyelinating, 4	Apnea	OMIM:612233
Gracile Bone Dysplasia	Failure to thrive, Ascites, Hypocalcemia, Decreased skull ossification, Micropenis, Asplenia, Hyp...	OMIM:602361
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Hyp...	OMIM:614921
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic a...	ORPHA:79282
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti...	ORPHA:358
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exertional dyspnea, Dys...	OMIM:610921
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea	OMIM:619797
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica...	OMIM:201475
Chediak-Higashi Syndrome	Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom...	OMIM:214500
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypomagnesemia, Nail dystrophy, Hypocalcemia, Hypokalemia, Nail dysplasia, Cachexia, An...	OMIM:175500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Autosomal Dominant Hypocalcemia	Alopecia, Nephrocalcinosis, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Abnormal fi...	ORPHA:428
Aicardi-Goutieres Syndrome 1	Erythema, Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Pete...	OMIM:225750
Van Buchem Disease	Hearing impairment, Cranial hyperostosis, Elevated circulating alkaline phosphatase concentration...	OMIM:239100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Sensorineural hearing impairment, Radioulnar synostosis, Limited pronation/su...	OMIM:616738
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Hearing impairment, Atresia of the external audito...	OMIM:612562
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Recurrent otitis media, Sensorineural hearing impairment, ...	OMIM:194050
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Hirsutism, Protruding ear, Decr...	OMIM:300861
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, M...	OMIM:277410
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Long-Olsen-Distelmaier Syndrome	Low-set ears, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase co...	OMIM:620609
Calciphylaxis	Abnormality of skin physiology, Ectopic ossification, Hyperphosphatemia, Skin ulcer, Stage 5 chro...	ORPHA:280062
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce...	ORPHA:439232
Paget Disease Of Bone 4	Osteolysis, Elevated circulating alkaline phosphatase concentration, Hearing impairment	OMIM:606263
Hereditary Folate Malabsorption	Cheilitis, Failure to thrive, Recurrent urinary tract infections, Pancytopenia, Pallor, Eosinophi...	ORPHA:90045
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulatin...	OMIM:300291
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Low-set ears, Cholestasis, Decreased circulating T4 concentration, Sensorineural hearing impairme...	OMIM:610199
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Sensorineural hearing i...	ORPHA:79443
Congenital Myopathy 11	Apneic episodes in infancy	OMIM:619967
Autosomal Recessive Primary Microcephaly	Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bone morphology	ORPHA:2512
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxy...	OMIM:611126
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Increased circulating lacta...	ORPHA:514
Sialidosis Type 2	Nephropathy, Hearing impairment, Ascites, Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contr...	ORPHA:87876
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Increased circulating anti...	ORPHA:48104
Dermatomyositis	Erythema, Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody ...	ORPHA:221
Birk-Aharoni Syndrome	Hearing impairment, Failure to thrive, Thick eyebrow, Macrocytic anemia, Micropenis, Duplicated c...	OMIM:620071
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Pancolitis,...	OMIM:618213
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hearing impairment, Heparan sulfate excretion in urine, Joint stiffness, Splenomegal...	OMIM:252920
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th...	OMIM:210200
Stormorken Syndrome	Howell-Jolly bodies, Increased circulating lactate dehydrogenase concentration, Elevated circulat...	OMIM:185070
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Endocardial Fibroelastosis	Abnormal helix morphology, Hypoglycemia, Low-set, posteriorly rotated ears, Hypoplasia of penis, ...	ORPHA:2022
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pal...	ORPHA:35858
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Epiphyseal stippling, Increased urinar...	OMIM:256550
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Apnea, Death in infancy	OMIM:614498
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:333
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Alopecia totalis, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:618775
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Hyperventilation, Apnea	OMIM:229700
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Hearing impairment, Failure to thrive, Cholestasis, Increased ...	OMIM:619377
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati...	OMIM:618935
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic...	ORPHA:79284
Mitochondrial Complex I Deficiency, Nuclear Type 5	Apnea	OMIM:618226
Common Variable Immunodeficiency	Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Failure to th...	ORPHA:1572
Non-Acquired Isolated Growth Hormone Deficiency	Microphallus, Premature skin wrinkling, Delayed puberty, Abdominal obesity, Prolonged neonatal ja...	ORPHA:631
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Reduced tissue carnitine O-palmitoyltran...	ORPHA:228308
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombo...	ORPHA:85212
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Red-brown urine, Hypoketotic h...	ORPHA:157
Williams Syndrome	Synostosis of joints, Type II diabetes mellitus, Sensorineural hearing impairment, Radioulnar syn...	ORPHA:904
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi...	OMIM:262700
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Sensorineural heari...	OMIM:614739
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Jaundice, Hemolytic anemia	ORPHA:33574
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Igg4-Related Thyroid Disease	Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu...	ORPHA:64744
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Recurrent fractures	OMIM:618107
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Sparse eyebrow, Coarse hair, Epiphyseal stippling, Sparse eyelashes, Anterior rib p...	ORPHA:35173
Bloom Syndrome	Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, A...	ORPHA:125
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp...	ORPHA:158029
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Eczematoi...	OMIM:256500
Joubert Syndrome 7	Episodic tachypnea, Tachypnea, Central apnea	OMIM:611560
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Laron Syndrome	Hypoglycemia, Delayed puberty, Hypercholesterolemia, Osteoarthritis, Truncal obesity, Abnormality...	ORPHA:633
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration	OMIM:620478
Congenital Neuronal Ceroid Lipofuscinosis	Apnea	ORPHA:168486
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu...	ORPHA:35878
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis, Hypergonadotropic hypogonadism	ORPHA:1014
Neutrophilic Dermatosis, Acute Febrile	Erythema, Acne inversa, Panniculitis, Anemia, Elevated circulating C-reactive protein concentrati...	OMIM:608068
Nemaline Myopathy 2	Apnea	OMIM:256030
Sengers Syndrome	Osteopenia, 3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Sensorineural hearing impairment, Megaloblastic anemia, Thrombocytopenia, Diabetes mellitus	ORPHA:49827
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Thin bony cortex	OMIM:265900
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Central hypoventilation	OMIM:618233
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Hearing impairment, Increased hepatic glycogen content, Copper accumulation in liv...	OMIM:614946
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Joint contracture of the hand, Low-set ears,...	OMIM:251300
Fanconi Renotubular Syndrome 3	Aminoaciduria, Rickets, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-...	OMIM:615605
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
22Q11.2 Deletion Syndrome	Low-set ears, Hearing impairment, Hypoparathyroidism, Hypospadias, Chronic otitis media, Polycyst...	ORPHA:567
Acquired Generalized Lipodystrophy	Insulin resistance, Abnormality of complement system, Insulin-resistant diabetes mellitus, Abnorm...	ORPHA:79086
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Reduced 3-phosphoglycerate dehydrogenase activity	OMIM:601815
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Low-set ears, Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Di...	OMIM:617729
Peroxisome Biogenesis Disorder 11A (Zellweger)	Apnea	OMIM:614883
Hypocomplementemic Urticarial Vasculitis	Ascites, Reduced circulating complement concentration, Autoimmunity, Episcleritis, Splenomegaly, ...	ORPHA:36412
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 61	Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased...	OMIM:300310
Grant Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Hsd10 Disease, Infantile Type	Hearing impairment, Hypoglycemia, Abnormal circulating enzyme concentration or activity, Hyperamm...	ORPHA:391428
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Alopecia, Decreased circulating carnitine concentration, Ketonuria, Organic acid...	OMIM:210210
Takayasu Arteritis	Skin ulcer, Increased inflammatory response, Inflammatory abnormality of the eye, Weight loss, Ar...	ORPHA:3287
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Abnormal helix morphology, Hearing impairment, T...	ORPHA:61
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Pallor, Neoplasm of the pancreas, Elevate...	ORPHA:892
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated ci...	OMIM:618120
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Aredyld Syndrome	Craniofacial hyperostosis, Type I diabetes mellitus, Sparse body hair, Low-set, posteriorly rotat...	ORPHA:1133
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hep...	OMIM:105200
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Urban-Rogers-Meyer Syndrome	Aplasia/Hypoplasia of the earlobes, Camptodactyly of finger, Increased circulating IgE level, Hyp...	ORPHA:3409
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Granuloma, Osteom...	ORPHA:228119
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Pontocerebellar Hypoplasia, Type 16	Apnea	OMIM:619527
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract i...	ORPHA:169105
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Painless fractures due to injury, Recurrent hypoglycemi...	OMIM:256810
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Hearing impairment, Abnormal toenail morphology, Sensorineural...	ORPHA:494
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho...	ORPHA:3032
Juvenile Neuronal Ceroid Lipofuscinosis	Episodic tachypnea, Apnea	ORPHA:79264
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:619484
Cranioectodermal Dysplasia 1	Chronic kidney disease, Low-set ears, Thin nail, Hepatomegaly, Tubulointerstitial nephritis, Spar...	OMIM:218330
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficienc...	OMIM:269200
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Pallor, Reactive hypoglycemia, Pancreatic islet-cell ...	ORPHA:276608
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Stage 5 chronic k...	OMIM:608612
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Elevated circulating hepatic transaminase concentration, Failure to th...	OMIM:608799
Dracunculiasis	Limitation of joint mobility, Skin ulcer, Skin rash, Arthritis, Flexion contracture, Pruritus, Re...	ORPHA:231
Fetal Parvovirus Syndrome	Anemia, Ascites, Thrombocytopenia	ORPHA:295
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Tricho...	ORPHA:634
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con...	ORPHA:449432
Mucopolysaccharidosis, Type Iiia	Coarse hair, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Hearing impairment, He...	OMIM:252900
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, F...	ORPHA:2089
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Abnormality of complement system, Splenomegaly, Hepatic steatosis, Generalize...	ORPHA:2348
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Menkes Disease	Alopecia, Joint hypermobility, Cutis laxa, Brittle hair, Osteoporosis, Decreased circulating ceru...	OMIM:309400
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Facial hypertrichosis, Red-brown urine, Purple urine, Erythr...	ORPHA:95159
Pancreatic insufficiency, combined exocrine	Exocrine pancreatic insufficiency, Hypoproteinemia	OMIM:260450
Von Hippel-Lindau Syndrome	Polycythemia, Pheochromocytoma, Neoplasm of the pancreas, Sensorineural hearing impairment, Tinni...	OMIM:193300
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Kaposiform Lymphangiomatosis	Fractures of the long bones, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the l...	ORPHA:464329
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Pmm2-Cdg	Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Impaired n...	ORPHA:79318
Renpenning Syndrome	Hypospadias, Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Joint stiffness, Sensorineura...	ORPHA:3242
Hypoadrenocorticism, Familial	Apnea	OMIM:240200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggr...	OMIM:124900
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Hsd10 Mitochondrial Disease	Hypoglycemia, Elevated circulating tiglylglycine concentration, Sensorineural hearing impairment	OMIM:300438
Peeling Skin Syndrome 1	Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Erythroderma, Scaling...	OMIM:270300
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Aminoaciduria, Failure to thrive, Hypoglycemia, Elevated circulating creatine ki...	OMIM:619055
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Developmental And Epileptic Encephalopathy 99	Central apnea	OMIM:619606
Bachmann-Bupp Syndrome	Cupped ear, Small nail, Hypoglycemia, Dry skin, Large for gestational age, Hyperbilirubinemia, Sp...	OMIM:619075
Mast Cell Sarcoma	Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Weight loss, Lymphadenopathy, Hepato...	ORPHA:66661
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea	ORPHA:137754
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:620138
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen...	OMIM:618398
Isovaleric Acidemia	Bone marrow hypocellularity, Hyperglycinuria, Elevated urinary isovalerylglycine level, Pancytope...	OMIM:243500
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Small fo...	OMIM:614702
Systemic Sclerosis	Chronic kidney disease, Digital ulcer, Glomerulonephritis, Abnormality of the kidney, Albuminuria...	ORPHA:90291
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Adams-Oliver Syndrome	Alopecia, Failure to thrive, Hypoplastic fingernail, Ascites, Leukopenia, Portal hypertension, Co...	ORPHA:974
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic tetany, Abnormal circulating follicle-stimulating hormone concent...	ORPHA:93325
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Renal agenesis, HbH hemoglobin, Sensorineural hearing impairment, Hydronephrosis, P...	OMIM:301040
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Pigmented Nodular Adrenocortical Disease, Primary, 4	Acne, Osteopenia, Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adren...	OMIM:615830
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Failure to thrive, Synophrys	ORPHA:476126
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr...	ORPHA:445038
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo...	ORPHA:79329
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Phenylketonuria	Elevated urinary gamma-glutamylphenylalanine level, Eczematoid dermatitis, Fair hair, Increased l...	OMIM:261600
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia, Hypogonadotropic hypogonadism, Finger joint contracture, Osteoporosis, Flexion cont...	ORPHA:48431
Opsismodysplasia	Low-set ears, Hypophosphatemia, Posteriorly rotated ears	OMIM:258480
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positiv...	ORPHA:90159
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Glutaric Acidemia I	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive...	OMIM:231670
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Camptodactyly of finger, Fingernail dy...	ORPHA:2251
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Sclerosis of skull...	OMIM:618162
Illum Syndrome	Apnea	OMIM:208155
Gaucher Disease, Perinatal Lethal	Low-set ears, Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Petechiae, Decreased bo...	OMIM:608013
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Hearing impairment, Pancytopenia, Acute myeloid leukemia, Thrombocyt...	OMIM:616435
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Digeorge Syndrome	Low-set ears, Recurrent otitis media, Hepatic steatosis, Renal dysplasia, Cholelithiasis, Parathy...	OMIM:188400
Granulomatosis With Polyangiitis	Sensorineural hearing impairment, Hematuria, Prostatitis, Weight loss, Elevated circulating C-rea...	ORPHA:900
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein conc...	ORPHA:85414
Juvenile Hyaline Fibromatosis	Skin ulcer, Abnormal hair morphology, Joint stiffness, Progressive flexion contractures, Osteolysis	ORPHA:2028
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Small nail, Pterygium of nails, P...	OMIM:224230
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Atopic dermatitis, Thrombocyt...	OMIM:618624
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia	OMIM:193670
Wolman Disease	Hepatic failure, Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegal...	ORPHA:75233
Wolfram Syndrome 1	Hydroureter, Hearing impairment, Sideroblastic anemia, Sensorineural hearing impairment, Hydronep...	OMIM:222300
Hb Bart'S Hydrops Fetalis	Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Hajdu-Cheney Syndrome	Low-set ears, Periodontitis, Hearing impairment, Dry skin, Decreased skull ossification, Generali...	ORPHA:955
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Macrotia, Hyperinsulinemia, Type II diab...	OMIM:269700
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypop...	OMIM:619151
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Thyrocerebrorenal Syndrome	Nephritis, Euthyroid goiter, Renal insufficiency, Sensorineural hearing impairment, Thrombocytopenia	ORPHA:3327
Degcags Syndrome	Chronic kidney disease, Low-set ears, Hearing impairment, Premature graying of hair, Cholestasis,...	OMIM:619488
Developmental And Epileptic Encephalopathy 90	Apneic episodes in infancy	OMIM:301058
Xanthinuria, Type I	Hypouricemia, Reduced circulating xanthine oxidase activity, Pyelonephritis, Xanthine nephrolithi...	OMIM:278300
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Hypogonadism, Alopecia totalis,...	ORPHA:221008
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Fine hair, Hypoglycemia, Low anterior hairline, Joint hypermobility, Sensorineural hearing impair...	ORPHA:391408
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hearing impairment, Lymphopenia, Hepatosplenomegaly, Sensorineural hearing impairment, Neutropeni...	OMIM:612541
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou...	ORPHA:549
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Ketonuria, Failure to thrive, Hypoglycem...	OMIM:615453
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology	ORPHA:166277
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Hypothyroidism, Thrombocytopenia	ORPHA:83601
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Extremely elevated creatine kinase, Leuk...	OMIM:615673
Congenital Disorder Of Glycosylation, Type Iib	Elevated circulating aspartate aminotransferase concentration, Long eyelashes, Decreased circulat...	OMIM:606056
Atypical Werner Syndrome	Limitation of joint mobility, Insulin-resistant diabetes mellitus, Premature graying of hair, Abn...	ORPHA:79474
Vascular Malformation, Primary Intraosseous	Hypochromic anemia, Elevated circulating alkaline phosphatase concentration	OMIM:606893
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, ...	OMIM:262190
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Primary Pulmonary Hypoplasia	Intrauterine growth retardation, Tachypnea, Apnea	ORPHA:2257
Developmental And Epileptic Encephalopathy 101	Apnea	OMIM:619814
Chronic Granulomatous Disease	Eczematoid dermatitis, Skin ulcer, Splenomegaly, Otitis media, Hepatomegaly, Sinusitis, Inflammat...	ORPHA:379
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Abno...	ORPHA:79404
Sulfite Oxidase Deficiency, Isolated	Eczematoid dermatitis, Sulfite oxidase deficiency, Fine hair, Sulfocysteinuria, Decreased urinary...	OMIM:272300
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Aplasia/Hypoplasia of the nails, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Hydronephr...	ORPHA:163979
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Low-set ears, Long penis, Postprandial hyperglycemia, Hyper...	OMIM:246200
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Myositis, Paget disease of bone, Elevated circulating alkaline phosphatase concentration, Elevate...	OMIM:615422
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Tangier Disease	Decreased HDL cholesterol concentration, Dry skin, Nail dystrophy, Splenomegaly, Elevated circula...	OMIM:205400
Glycerol Kinase Deficiency	Low-set ears, Increased urinary glycerol, Hypoglycemia, Pathologic fracture, Adrenal insufficienc...	OMIM:307030
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Decreased body weight, Protruding ear, Neonatal hypoglycemia, Small for gestational...	ORPHA:231140
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb...	OMIM:616216
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse scalp hair, Hearing impairment, Sparse body hair, Macrotia, Aplasia/Hypoplasia o...	ORPHA:2850
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperspl...	ORPHA:731
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Sotos Syndrome	Small nail, Hearing impairment, Hip contracture, Abnormality of the kidney, Acute lymphoblastic l...	ORPHA:821
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Sparse eyebrow, Hypospadias, Unilateral renal agenesis, Hearing impairment...	ORPHA:487796
Poikiloderma With Neutropenia	Sparse eyebrow, Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, S...	OMIM:604173
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Alopecia, Failure to thrive, Decreased circulating IgA level, Na...	OMIM:620040
Pontocerebellar Hypoplasia Type 2	Apnea	ORPHA:2524
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Mitochondrial Trifunctional Protein Deficiency 2	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, Elev...	OMIM:620300
Atypical Rett Syndrome	Episodic tachypnea, Abnormal pattern of respiration, Sudden episodic apnea	ORPHA:3095
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Erythema, Aplastic anemia, Pathologic fracture, ...	ORPHA:221016
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Hyperphosphatemia, Low-set, posteriorly rotated ears, Hypocalcemia, Congen...	ORPHA:2323
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Pancytopenia, Sparse eyelashes, Acute myeloid leukemia, Cirrhosis, Spl...	OMIM:305000
Juvenile Polyposis Of Infancy	Low-set ears, Hypoalbuminemia, Cachexia, Anemia, Refractory anemia	ORPHA:79076
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulatin...	OMIM:124000
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Small nail, Failure to thrive, Large for g...	OMIM:614520
Shashi-Pena Syndrome	Low-set ears, Highly arched eyebrow, Unilateral renal agenesis, Cupped ear, Hypoglycemia, Hypertr...	OMIM:617190
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h...	ORPHA:79444
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased pro...	OMIM:614878
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegal...	OMIM:617913
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly, Pruritus	OMIM:607685
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Mandibuloacral Dysplasia	Insulin resistance, Alopecia, Increased circulating free fatty acid level, Contractures of the la...	ORPHA:2457
Alopecia Universalis	Alopecia universalis, Type I diabetes mellitus, Atopic dermatitis, Abnormal circulating lipid con...	ORPHA:701
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Interstitial Lung And Liver Disease	Aminoaciduria, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatic fibrosis, Intra...	OMIM:615486
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic...	ORPHA:169090
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Chilblain Lupus 1	Antinuclear antibody positivity, Chilblains, Skin ulcer, Abnormality of the nail	OMIM:610448
Bernard-Soulier Syndrome	Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Petechiae, Partially duplicated kidney,...	ORPHA:274
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Postprandial hyperglycemia, Graves disease, Urinary retention, Hypomagnesem...	ORPHA:79102
Molybdenum Cofactor Deficiency, Type C	Hypouricemia, Increased urinary taurine, Sulfite oxidase deficiency, Hypocystinemia, Molybdenum c...	OMIM:615501
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Oculodentodigital Dysplasia	Conductive hearing impairment, Hearing impairment, Fine hair, Cranial hyperostosis, Abnormal fing...	ORPHA:2710
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Xq28 (MECP2) duplication	Decreased circulating IgA level, Functional abnormality of the bladder, Failure to thrive, Macrotia	DECIPHER:45
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Acute hepatic failure, Hyp...	OMIM:616483
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Unilateral renal agenesis, Atresia of the external auditory canal, A...	OMIM:614900
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Elevated circulating parathyroid hormone level, Elevated circulating t...	OMIM:101800
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Whipple Disease	Insulin resistance, Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Hyponatremia, Hepat...	ORPHA:3452
Lethal Congenital Contracture Syndrome Type 1	Low-set, posteriorly rotated ears, Limitation of joint mobility, Abnormal cortical bone morpholog...	ORPHA:1486
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Hyperekplexia 3	Apnea	OMIM:614618
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundic...	OMIM:246400
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma...	OMIM:603585
Cold Agglutinin Disease	Abnormal urinary color, Autoimmunity, Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemoly...	ORPHA:56425
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea	OMIM:616896
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitari...	ORPHA:95619
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti...	OMIM:615512
Cushing Disease	Sparse scalp hair, Increased circulating cortisol level, Increased urinary cortisol level, Lympho...	ORPHA:96253
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia, Elevated circulating creatinine concentration, Hypercalciuria, Proximal re...	OMIM:179830
Xq12-Q13.3 Duplication Syndrome	Eczematoid dermatitis, Anterior creases of earlobe, Elevated circulating creatine kinase concentr...	ORPHA:314389
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Pituitary Apoplexy	Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr...	ORPHA:95613
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Eczematoid dermatitis, Sparse body hair, Congenital onychodystrop...	ORPHA:2890
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Curly eyelashes, Excessiv...	ORPHA:3051
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Elevat...	OMIM:620501
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Fail...	OMIM:222748
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle...	ORPHA:449563
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Abnormal pattern of respiration	OMIM:608800
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Failure to thrive, Premature g...	ORPHA:3322
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failu...	ORPHA:139402
Necrotizing Enterocolitis	Ascites, Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Hyponatremia, Peritonitis, Th...	ORPHA:391673
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
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
48,Xxyy Syndrome	Apnea	ORPHA:10
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Hyperventilation, Apnea	OMIM:617903
Pheochromocytoma	Hypercalcemia	OMIM:171300
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Tracheomalacia, Persistence of hemoglobin F...	OMIM:612561
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Petechiae, Ecchymosis, Hematuria, Purpura, Weight loss, L...	ORPHA:520
Giant Cell Arteritis	Alopecia, Hepatic failure, Abnormality of thrombocytes, Hearing impairment, Conductive hearing im...	ORPHA:397
Moynahan Syndrome	Alopecia, Hypogonadism, Sensorineural hearing impairment, Cachexia, Sparse hair	ORPHA:2574
Familial Cold Autoinflammatory Syndrome 1	Renal amyloidosis, Hearing impairment, Leukocytosis, Skin rash, Arthritis, Elevated circulating C...	OMIM:120100
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Abnormal circulating aldosterone, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hearing impairment, Dense calvaria, Hypertrichosis, Heparan sulfate excretion in uri...	OMIM:252930
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Myasthenic Syndrome, Congenital, 20, Presynaptic	Apnea, Hypoventilation	OMIM:617143
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Snakebite Envenomation	Erythema, Acute kidney injury, Hypopituitarism, Ecchymosis, Hyponatremia, Thrombocytopenia	ORPHA:449285
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Acute myeloid leu...	ORPHA:124
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, Interface hepati...	OMIM:243150
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Alopecia, Limitation of joint mobility, Hearing impairment, Breast aplasia, A...	ORPHA:90153
Tufted Angioma	Hypertrichosis, Petechiae, Thrombocytopenia, Anemia, Purpura	ORPHA:1063
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Shwachman-Diamond Syndrome 2	Normocytic anemia, Low-set ears, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechog...	OMIM:617941
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor...	OMIM:618752
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria, Eczematoid dermatitis, Hypertrichosis	OMIM:176090
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:480864
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur...	OMIM:255125
Adult-Onset Nemaline Myopathy	Paraproteinemia, Flexion contracture, Mildly elevated creatine kinase	ORPHA:171442
Mixed-Type Autoimmune Hemolytic Anemia	Systemic lupus erythematosus, Increased total bilirubin, Abnormal urinary color, Autoimmunity, Pa...	ORPHA:90036
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Erythema, Recurrent otitis media, Cholestasis, Hepatosplenomegaly, Dry skin, Hepati...	OMIM:619503
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Failure to thrive, Panhypogammaglobulinemia,...	OMIM:209920
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Progressive hearing impairment, H...	OMIM:616113
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Failure to thrive, Neutropenia, B lymphocytopenia	OMIM:601495
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepati...	ORPHA:746
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Nephrocalcinosis, Failure to thrive, Hypoglycemia, Hirsutism, Hypothyroidism, Joint c...	OMIM:618005
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:616878
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria	OMIM:615026
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, Premature graying of hair, Dry skin, Macrotia, Precocious pu...	ORPHA:769
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome...	OMIM:616651
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Hype...	ORPHA:565612
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Glycosylphosphatidylinositol Biosynthesis Defect 16	Elevated circulating alkaline phosphatase concentration	OMIM:617816
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Oligoarthritis, Neutrop...	OMIM:614204
Glycogen Storage Disease Ixd	Hypoglycemia, Exercise-induced myoglobinuria, Reduced muscle phosphorylase kinase activity, Eleva...	OMIM:300559
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Macrotia, Hyperinsul...	OMIM:608594
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity	OMIM:182410
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hype...	ORPHA:3008
D-2-Hydroxyglutaric Aciduria 1	Apnea	OMIM:600721
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Pancreatic And Cerebellar Agenesis	Low-set ears, Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Joint stiffn...	OMIM:609069
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Increased circulating IgE lev...	ORPHA:90368
Molybdenum Cofactor Deficiency, Type B	Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ...	OMIM:252160
Toxic Epidermal Necrolysis	Erythema, Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Sk...	ORPHA:537
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Fibrodysplasia Ossificans Progressiva	Alopecia, Conductive hearing impairment, Ectopic ossification in ligament tissue, Progressive cer...	OMIM:135100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Ascites, Abnormality of the liver, Hyperbilirubinemia, Hip contracture, Abnormal renal cortex mor...	ORPHA:464321
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Enuresis nocturna, Erythema, Dec...	ORPHA:420741
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Joint stiffness, Decreased body weight, Absent eyela...	ORPHA:2985
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Failure to thrive, Increased circulating IgE level, Long eyelashes, Pustule	OMIM:616069
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoglycemia, Hyperglycemia, Hyperglycinemia, Thrombocytopenia, Hyperna...	OMIM:620423
Roch-Leri Mesosomatous Lipomatosis	Purpura, Thrombocytopenia	ORPHA:529
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Low-set ears, Unilateral renal agenesis, Sparse eyebrow, Renal hypoplasia, Tracheomalacia, Recurr...	OMIM:620654
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Thrombocytopenia...	OMIM:616271
Camurati-Engelmann Disease, Type 2	Osteopenia, Hypogonadism, Hyperostosis, Hip contracture, Knee flexion contracture, Elevated circu...	OMIM:606631
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Precocious puberty, Abnormality of alkaline phosphatase level, Hypoplastic...	OMIM:619356
Hurler-Scheie Syndrome	Limitation of joint mobility, Splenomegaly, Sensorineural hearing impairment, Generalized hirsuti...	ORPHA:93476
Hyperparathyroidism, Transient Neonatal	Low-set ears, Hyperparathyroidism, Osteopenia, Fractured rib, Unilateral renal agenesis, Splenic ...	OMIM:618188
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly	ORPHA:42642
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Petechiae, Ecchymosis, Absence of alpha granules...	OMIM:187900
Lig4 Syndrome	Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Type II diabetes mellitus, Chronic sinu...	OMIM:606593
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Low-set, post...	ORPHA:30
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Glandular hypospadias, Abnormal erythrocyte morphology,...	ORPHA:2575
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Female hypogonad...	ORPHA:91349
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Eczematoid dermatitis, Organic aciduria, Large earlobe, Dry skin, Long eyelashes, Obesity, Joint ...	OMIM:620191
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
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Osteopenia, Dermal translucency, Fine hair, Premature graying of hai...	OMIM:612199
Cartilage-Hair Hypoplasia	Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Limited elbow extension, Macrocytic anemia, Sp...	OMIM:250250
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Precocious puberty, Alopecia, Elevated circulating 17-hydroxyprogesterone c...	ORPHA:90795
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatitis, Hyponatrem...	ORPHA:199296
D-Glyceric Aciduria	Aminoaciduria, Failure to thrive, Hypoglycemia, Sensorineural hearing impairment, Reduced hepatic...	OMIM:220120
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Abnormal circulating selenium concentration, IgA deposition in the glomer...	ORPHA:79408
Joubert Syndrome 3	Episodic tachypnea, Central apnea	OMIM:608629
Myotonia, Potassium-Aggravated	Apneic episodes in infancy	OMIM:608390
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Aplasia Cutis Congenita	Erythema, Skin ulcer, Abnormality of bone mineral density	ORPHA:1114
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Ascites, Petechiae, Abnormal renal corti...	OMIM:617397
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Abnormal circulat...	ORPHA:668
Mannosidosis, Alpha B, Lysosomal	Hypertrichosis, Thick eyebrow, Splenomegaly, Decreased circulating alpha-mannosidase activity, Lo...	OMIM:248500
Tenorio Syndrome	Osteopenia, Recurrent pneumonia, Hypoglycemia, Hypertrichosis, Recurrent aphthous stomatitis, Thi...	OMIM:616260
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Hearing impairment, White hair, Abnormal renal tubule morphology, Abnormality...	ORPHA:2720
Gaucher Disease, Type I	Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, A...	OMIM:230800
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Thrombocytopenia, Curly hair, Camptodactyly, Sparse hair, Posterior...	OMIM:619980
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Hypersegmentation of neutrophil nuclei...	OMIM:601775
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Failure to thrive, Hypoglycemia, Splenomegaly, 3-hydroxydicarboxylic aciduria, S...	OMIM:252010
Recon Progeroid Syndrome	Dry skin, Hyperconvex thumb nails, Hirsutism, Joint hypermobility, Attached earlobe, Keratoconjun...	OMIM:620370
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hemophagocytosis, Hepatosplenomegaly, Weight loss, Panniculitis	ORPHA:86884
Melnick-Needles Syndrome	Craniofacial hyperostosis, Hearing impairment, Vesicoureteral reflux, Abnormal cortical bone morp...	ORPHA:2484
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Cirrhosis, Thrombocytopenia, Testicula...	OMIM:613987
Timothy Syndrome	Pneumonia, Hypoglycemia, Hypocalcemia, Cardiomegaly, Hypothyroidism	OMIM:601005
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypoglyc...	ORPHA:90062
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:289548
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea	OMIM:612949
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrauterine growth retardation, Apnea, Death in childhood	OMIM:214110
Pneumocystosis	Increased circulating lactate dehydrogenase concentration, Interstitial pneumonitis, Increased ci...	ORPHA:723
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Renal hypoplasia, Hearing impairment, Fine hair, Recurrent hypoglycemia, Sensorineural hearing im...	OMIM:616817
Werner Syndrome	Insulin resistance, Abnormal hair whorl, Skin ulcer, Premature graying of hair, Hypogonadism, Sle...	ORPHA:902
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Acute kidney injury, Hyperphosphatemia, Oliguria, Decreased liver function, Dry ...	ORPHA:466650
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Abnormal circulating choles...	ORPHA:168558
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Coronal craniosynostosis, Severe B lymphocytopenia, Coarse hair, Cholelithiasis, Ec...	ORPHA:83617
Blau Syndrome	Nephropathy, Erythema, Limitation of joint mobility, Dry skin, Synovitis, Iridocyclitis, Erythema...	ORPHA:90340
Incontinentia Pigmenti	Erythema, Alopecia, Ridged fingernail, Keratitis, Dystrophic toenail, Skin ulcer, Supernumerary n...	ORPHA:464
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe...	ORPHA:59303
Paget Disease Of Bone 6	Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left ventricular hyper...	OMIM:616833
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Apnea	OMIM:300055
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Abnormal renal collecting system morphol...	ORPHA:17
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Elevated tissue non-specific alkaline phosphatase, A...	ORPHA:785
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sparse eyebrow, Macrocytic anemia, Sensorineural hearing impairment, Low posterior hairline, Mixe...	OMIM:606164
D-Bifunctional Protein Deficiency	Low-set ears, Osteopenia, Fetal ascites, Elevated circulating hepatic transaminase concentration,...	OMIM:261515
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity...	OMIM:615630
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Myotonia Fluctuans	Apnea	ORPHA:99734
Spondyloenchondrodysplasia	Pneumonia, Chronic kidney disease, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased ...	ORPHA:1855
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism, Acne	OMIM:604931
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Abnormal circulating lipid concentration, Low-set, posteriorly rotate...	ORPHA:3191
Say-Barber-Miller Syndrome	Highly arched eyebrow, Sparse eyebrow, Decreased circulating IgG level, Eczematoid dermatitis, Hy...	ORPHA:3132
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Alopecia, Inflammatory abnormality of the skin, Spar...	OMIM:610768
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration, Early balding, Acne	ORPHA:1551
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis, Sensorineural hearing impairment	OMIM:221700
Microscopic Polyangiitis	Erythema, Uveitis, Oliguria, Skin ulcer, Autoimmunity, Episcleritis, Skin rash, Renal insufficien...	ORPHA:727
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Increased circulating lactate de...	OMIM:230450
Hypophosphatemic Rickets, Autosomal Recessive, 2	Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia, Elevated circulating alk...	OMIM:613312
Dubowitz Syndrome	Hearing impairment, Dry skin, Abnormal antihelix morphology, Hypoparathyroidism, Acute lymphoblas...	ORPHA:235
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Apnea, Hypoventilation	ORPHA:314655
Reynolds Syndrome	Skin ulcer, Ascites, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Cirrhosis, A...	ORPHA:779
Juvenile Dermatomyositis	Erythema, Alopecia, Limitation of joint mobility, Skin ulcer, Dry skin, Autoimmunity, Skin rash, ...	ORPHA:93672
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Mediastinal lymphadenopathy, Pancytopenia, Abnormality of T ...	OMIM:181000
Vici Syndrome	Low-set ears, Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasi...	OMIM:242840
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Osteolysis involving bones of the upper limbs, Camptodactyly, Flexion contracture, Oste...	ORPHA:88630
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Duplicated collecting system, Renal agenesis, Hearing impairment, Ho...	OMIM:227645
Macs Syndrome	Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Redundant skin, Joint hypermobility, Dec...	OMIM:613075
Trichothiodystrophy	Dry skin, Neutropenia, Brittle hair, Split nail, Bilateral sensorineural hearing impairment, Oste...	ORPHA:33364
Lathosterolosis	Intrahepatic cholestasis, Hepatic failure, Hearing impairment, Failure to thrive, Horseshoe kidne...	ORPHA:46059
Hyperekplexia 1	Apnea	OMIM:149400
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Insulin resistance, Premature graying of hair, Decreased HDL cholest...	ORPHA:280365
Combined Oxidative Phosphorylation Deficiency 18	Methylmalonic aciduria, Macrocytic anemia, Hypersegmentation of neutrophil nuclei	OMIM:615578
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Lymphopenia, Joint contracture, Neutropenia, Elevated circulating C-reactive protein ...	OMIM:620443
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Paronychia, Failure to thrive, Perioral erythema, Increased circulating IgE le...	OMIM:614328
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Pruritus, Cholestasis, Predominantly der...	ORPHA:293173
Lichen Planopilaris	Alopecia, Hepatitis, Skin ulcer, Abnormal fingernail morphology, Onycholysis, Pruritus	ORPHA:525
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Diaphanospondylodysostosis	Low-set ears, Tracheomalacia, Hypoplastic fingernail, Nephrogenic rest, Nephroblastomatosis, Hors...	OMIM:608022
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv...	ORPHA:90791
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Abnormal helix morphology, Small nail, Supernumerary nipple, Increa...	ORPHA:373
Fanconi Anemia, Complementation Group D2	Low-set ears, Bone marrow hypocellularity, Duplicated collecting system, Annular pancreas, Renal ...	OMIM:227646
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circul...	ORPHA:90790
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Pruritus, Nail dystrophy	OMIM:616487
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate, Hypoglycemia	OMIM:618182
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Quinquaud Folliculitis Decalvans	Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre...	ORPHA:346
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema	OMIM:212360
Joubert Syndrome	Episodic tachypnea, Apnea, Abnormal pattern of respiration	ORPHA:475
Kcnq2-Related Epileptic Encephalopathy	Apnea	ORPHA:439218
Holoprosencephaly	Highly arched eyebrow, Abnormality of the urinary system, Hypoglycemia, Failure to thrive in infa...	ORPHA:2162
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Frontal upsweep of hair, Sensorineural hearing impairme...	OMIM:243800
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Thrombocytopenia	OMIM:617710
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Hearing impairment, Lymphopenia, Leukopenia, ...	ORPHA:508542
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Dry skin, Elevated circulating alkaline phosphatase concentration,...	OMIM:280000
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Rhizomelic Chondrodysplasia Punctata	Alopecia, Limitation of joint mobility, Sparse body hair, Dry skin, Epiphyseal stippling	ORPHA:177
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Failure to thrive, Brittle hair	ORPHA:50812
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Conductive hearing impairment, Failure ...	OMIM:603467
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Osteo...	ORPHA:171876
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Acute hepatic...	OMIM:618641
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia, Hepatomegaly	ORPHA:5
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Hypoglycemia, Fine hair, Long eyelashes, Small for gestational age	ORPHA:231137
Wieacker-Wolff Syndrome	Apnea	OMIM:314580
Deeah Syndrome	Low-set ears, Hearing impairment, Decreased response to growth hormone stimulation test, Panhypop...	OMIM:619004
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Osteolytic defects of the phalanges of the hand, Mildly elevated ...	OMIM:600705
Polyarteritis Nodosa	Erythema, Skin ulcer, Weight loss, Abnormality of the kidney, Elevated circulating C-reactive pro...	ORPHA:767
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Pruritus, Nail dystrophy, Abnormal toenail morphology	ORPHA:89843
Leprechaunism	Low-set ears, Facial hypertrichosis, Hyperinsulinemia, Decreased body weight, Hepatomegaly, Postp...	ORPHA:508
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins...	ORPHA:456312
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Thyrocerebroretinal Syndrome	Sensorineural hearing impairment, Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Autosomal Dominant Optic Atrophy, Classic Form	Hypogonadism, Macrocytic anemia, Sensorineural hearing impairment, Hypothyroidism, Diabetes mellitus	ORPHA:98673
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Eosinophilia, Cachexia, Incre...	ORPHA:75565
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Hearing impairment, Panhypogammaglobulinemia, Decreased respons...	OMIM:307200
Isolated Complex I Deficiency	Proximal tubulopathy, Failure to thrive, Hypoglycemia, Sensorineural hearing impairment, Hepatome...	ORPHA:2609
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Flexion contracture, Large fleshy ears	OMIM:203550
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Familial Glucocorticoid Deficiency	Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating...	ORPHA:361
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit...	OMIM:614227
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Hearing impairment, Aspiration pneumonia, Ascites, Splen...	OMIM:301072
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Alopecia, Abnormal hair morphology, Hyperlipidemia, Nail dystrophy, Acroosteo...	ORPHA:90154
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	ORPHA:100075
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Increased mean corpuscular volume, Hearing impairment, Protruding ear, Abn...	ORPHA:261250
Schimmelpenning-Feuerstein-Mims Syndrome	Precocious puberty, Osteopenia, Alopecia, Horseshoe kidney, Hypophosphatemic rickets, Hyperphosph...	OMIM:163200
Bcard Syndrome	Low-set ears, Osteopenia, Coarse hair, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Familial Mediterranean Fever	Nephrotic syndrome, Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, ...	OMIM:249100
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Small nail, Fine hair, Trichorrhexis nodosa, Hypogonadism, Tiger...	OMIM:601675
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Lymphopenia, Interstitial pneumonitis, Thromboc...	ORPHA:454831
Chronic Mucocutaneous Candidiasis	Erythema, Hepatitis, Skin ulcer, Recurrent urinary tract infections, Abnormal fingernail morpholo...	ORPHA:1334
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Small nail, Hearing impairment, Elbow flexion contracture, Large fo...	OMIM:300868
Aicardi-Goutières Syndrome	Low-set ears, Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase con...	ORPHA:51
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Failure to thrive, Pathologic fracture, Progressive clavicular acrooste...	OMIM:614008
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Microtia	OMIM:618158
Dermatoosteolysis, Kirghizian Type	Keratitis, Dystrophic toenail, Skin ulcer, Osteolysis, Dystrophic fingernails, Osteoarthritis, Ta...	ORPHA:1657
Rett Syndrome	Intermittent hyperventilation, Apnea	OMIM:312750
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea	OMIM:614462
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy a...	ORPHA:79153
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia, Sensorineural hearing impairment	OMIM:616577
Fatal Familial Insomnia	Apnea	OMIM:600072
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99413
Mosaic Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99228
Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:99226
Turner Syndrome	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy...	ORPHA:881
Osteogenesis Imperfecta	Osteopenia, Small for gestational age, Fractures of the long bones, Hearing impairment, Progressi...	ORPHA:666
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Stevens-Johnson Syndrome	Erythema, Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Ac...	ORPHA:36426
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubin...	OMIM:608885
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Sparse hair, Onychogryposis, Alopecia, Breast aplasia, Breast hyp...	OMIM:308300
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Craniofacial osteosclerosis, Increased skull ossification, Long eyelashes, Hypocalcemia, Osteopet...	OMIM:618476
Diamond-Blackfan Anemia 5	Low-set ears, Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hypospadias	OMIM:612528
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Sensorineural hearing impairme...	ORPHA:202
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoglycemia, Hypoplastic toenails, Sensorineural hearing impairment, Impaired hist...	ORPHA:2158
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Low-set ears, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypog...	OMIM:608688
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Elevated circulating alkaline phosphatase concentration, Protei...	ORPHA:330001
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Fulminant h...	OMIM:231530
Diamond-Blackfan Anemia 10	Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory...	OMIM:613309
21Q22.11Q22.12 Microdeletion Syndrome	Low-set ears, Small nail, Recurrent otitis media, Failure to thrive in infancy, Dry skin, Nail dy...	ORPHA:261323
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Osteopetrosis, Hepatomegaly, Hypopi...	OMIM:618541
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Skin ulcer, Abnormal fingernail morphology, Sensorineural hearing impairment,...	ORPHA:659
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Alopecia, Hearing impairment, Hypogonadism, Delayed menarche, Type II d...	ORPHA:412057
Sotos Syndrome	Low-set ears, Sparse eyebrow, High anterior hairline, Conductive hearing impairment, Small nail, ...	OMIM:117550
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Hearing impairment, Chronic pancreatitis...	OMIM:610717
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Sparse eyebrow, Erythema, Fine hair, Macroti...	OMIM:614748
Kaufman Oculocerebrofacial Syndrome	Low-set ears, Sparse eyebrow, Failure to thrive, Hypocholesterolemia, Sparse hair, Abnormal pinna...	OMIM:244450
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myelofibrosis...	OMIM:254450
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Infantile Systemic Hyalinosis	Osteopenia, Aplasia/Hypoplasia of the thymus, Failure to thrive, Osteomalacia, Camptodactyly of f...	ORPHA:2176
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hypoglycemia, Recurrent otitis media, Hepatosplenomegaly, Obe...	OMIM:301066
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Increased circulating IgE level, Decreased serum insulin-like growth facto...	OMIM:618985
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the...	OMIM:618223
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Developmental And Epileptic Encephalopathy 95	Highly arched eyebrow, Hearing impairment, Multiple joint contractures, Elevated circulating alka...	OMIM:618143
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ...	OMIM:129500
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Abnormality of the ureter, Nephroblastoma,...	OMIM:180860
Noonan Syndrome 4	Low-set ears, Sparse eyebrow, High anterior hairline, Large for gestational age, Hydronephrosis, ...	OMIM:610733
Subcorneal Pustular Dermatosis	Erythema, Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating...	ORPHA:48377
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Joubert Syndrome With Oculorenal Defect	Tachypnea, Apnea	ORPHA:2318
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Abnormal urinary color, Autoimmunity, Pallor, Splenomegaly, Autoimm...	ORPHA:90033
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Cryoglobulinemia, Proteinu...	OMIM:123550
Chanarin-Dorfman Syndrome	Alopecia, Hepatic steatosis, Sensorineural hearing impairment, Hepatomegaly, Microtia	OMIM:275630
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Hearing impairment, Horseshoe kidney, Pancytopenia,...	OMIM:227650
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark...	ORPHA:521219
Immune Thrombocytopenia	Petechiae, Hematuria, Thrombocytopenia, Anti-platelet antigen antibody positivity, Purpura	ORPHA:3002
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Hearing impairment, Horseshoe kidney, Pancytopenia,...	OMIM:600901
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy	OMIM:618426
Kearns-Sayre Syndrome	Sideroblastic anemia, Primary adrenal insufficiency, Renal tubular acidosis, Sensorineural hearin...	OMIM:530000
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Joubert Syndrome With Renal Defect	Apnea, Abnormal pattern of respiration	ORPHA:220497
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura	OMIM:620296
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Abnormal circulating osteocalcin level, Increased susceptibility to...	ORPHA:93315
Cholera	Acute kidney injury, Hypoglycemia, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia,...	ORPHA:173
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Low-set ears, Small nail, Hearing impairment, ...	OMIM:618580
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Alopecia, Nail dystrophy	ORPHA:79397
Malonyl-Coa Decarboxylase Deficiency	Elevated urine suberic acid level, Methylmalonic aciduria, Hypoglycemia, Reduced malonyl-CoA deca...	OMIM:248360
Central Hypoventilation Syndrome, Congenital, 1	Nocturnal hypoventilation, Apnea, Hypoventilation, Central hypoventilation	OMIM:209880
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer, Foot osteomyelitis	ORPHA:139578
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:244242
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi...	OMIM:259600
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Hearing impairment, Hypertrichosis, Recurrent otitis media, Heparan sulfate ...	OMIM:309900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent pneumonia, Erythema, Eczematoid dermatitis, Cutaneous abscess, Chronic muco...	OMIM:147060
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Failure to thrive, Dicarboxylic aciduria, Ketotic hypoglycemia, Hyperalaninemia	OMIM:620646
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased r...	ORPHA:3464
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Lymphopenia, Agammaglobulinemia, Anemia, Reduced bone mineral density, Abn...	ORPHA:935
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accu...	OMIM:618042
Aspartylglucosaminuria	Joint stiffness, Aspartylglucosaminuria, Abnormal cortical bone morphology, Splenomegaly, Arthrit...	ORPHA:93
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Renal insufficiency, Skin rash, Hydronephrosis, Hypogonadotropic hypo...	ORPHA:35687
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Large for gestational age, Curly hair, Neonatal hypoglycemia, Hy...	ORPHA:457485
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Alopecia, Decreased response to growth hormone stimulation test, Craniosynostosis, ...	OMIM:601853
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Papillon-Lefèvre Syndrome	Periodontitis, Hypertrichosis, Abnormal fingernail morphology, Sparse body hair, Osteolysis, Nail...	ORPHA:678
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosi...	ORPHA:2658
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Central hypothyroidism, Hypoglycemia, Progressive hearing impairment, Decreased serum t...	ORPHA:453533
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Hearing impairment, Failure to thrive, Elevated 8(9)-cholestenol, Stippled calcif...	OMIM:302960
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Alopecia, Periodontitis, Redundant skin, Joint hypermobility, Keratoconjunctivitis si...	ORPHA:536532
Gaucher Disease, Type Ii	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pne...	OMIM:230900
Adrenoleukodystrophy	Alopecia, Hearing impairment, Urinary bladder sphincter dysfunction, Hypogonadism, Primary adrena...	OMIM:300100
Monosomy 18P	Alopecia, Autoimmunity, Abnormal antihelix morphology, Low posterior hairline, Protruding ear, Hy...	ORPHA:1598
Orthostatic Hypotension 1	Hypomagnesemia, Joint hypermobility, Increased blood urea nitrogen, Nocturia, Elevated circulatin...	OMIM:223360
Orofaciodigital Syndrome Type 1	Alopecia, Coarse hair, Elevated circulating hepatic transaminase concentration, Multicystic kidne...	ORPHA:2750
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Hyposerinemia, Failure to thrive, Hypogonadism, Esophagitis, Megaloblastic anemia...	ORPHA:79351
Orofaciodigital Syndrome Xvi	Apnea	OMIM:617563
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal...	ORPHA:248
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Fucosidosis	Low-set ears, Oligosacchariduria, Hearing impairment, Failure to thrive, Dry skin, Reduced circul...	OMIM:230000
Hatipoglu Immunodeficiency Syndrome	Atopic dermatitis, Fair hair, Eczematoid dermatitis, Premature graying of hair, Recurrent otitis ...	OMIM:620331
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Alopecia, Small nail, Horseshoe kidney, Absent eyelashes, Renal cyst, Absent eyebro...	ORPHA:166035
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hearing...	OMIM:158310
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Skin ulcer, Osteomyelitis, Leukocytosis, Rectal...	OMIM:116920
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Thrombocytopenia	OMIM:619981
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Neonatal death	OMIM:616482
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis, Increased serum zinc, Skin rash	OMIM:601979
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Progressive sensorineural hearing impairment, ...	ORPHA:2237
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ra...	ORPHA:31205
Biotinidase Deficiency	Alopecia, Eczematoid dermatitis, Organic aciduria, Hearing impairment, Skin rash, Hyperammonemia,...	ORPHA:79241
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Prominent antihelix, Premature skin wrinkling, Elbow flexion contracture, Medu...	OMIM:618947
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Congenital Disorder Of Glycosylation, Type Ix	Micropenis, Failure to thrive, Thrombocytopenia	OMIM:615597
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Renal hypoplasia, Leukocytosis, Hepatic steatosis, Hypoplasia of the ovary, Abdominal o...	OMIM:619321
Stt3B-Cdg	Micropenis, Failure to thrive, Thrombocytopenia	ORPHA:370924
Joubert Syndrome With Ocular Defect	Apnea, Abnormal pattern of respiration	ORPHA:220493
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Hearing impairment, Elevated circulating alka...	OMIM:167250
Menkes Disease	Sparse hair, Hypoglycemia, Osteomyelitis, Dry skin, Tarsal synostosis, Joint hypermobility, Bladd...	ORPHA:565
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Mucolipidosis Ii Alpha/Beta	Osteopenia, Sparse eyebrow, Recurrent pneumonia, Limitation of joint mobility, Increased serum be...	OMIM:252500
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Pruritus, Skin ulcer	ORPHA:2337
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmune hemol...	OMIM:251260
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Low alkaline p...	OMIM:146300
American Trypanosomiasis	Pallor, Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopathy, Myocardi...	ORPHA:3386
Cranioectodermal Dysplasia 2	Low-set ears, Cholestasis, Hyperbilirubinemia, Sparse eyelashes, Hepatomegaly, Sparse hair, Bile ...	OMIM:613610
Myotonic Dystrophy 2	Decreased circulating IgG level, Frontal balding, Insulin insensitivity, Hypogonadism, Type II di...	OMIM:602668
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplas...	OMIM:612843
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea	OMIM:615157
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Fle...	OMIM:619183
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age, Abnormality of the nail	ORPHA:621
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Elevated circulating alkaline phosphatase concentration, Mixed hearing impairment, Os...	OMIM:126550
Mulibrey Nanism	Ascites, Nephroblastoma, Cardiomegaly, Thickened cortex of long bones, Hepatomegaly	OMIM:253250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Frontal balding, Weight loss, Renal salt wasting, Hyperkalemia, Neonatal hy...	ORPHA:90794
Combined Oxidative Phosphorylation Deficiency 58	Low-set ears, Hypoglycemia, Elevated circulating alkaline phosphatase concentration, Hyperproline...	OMIM:620451
Camurati-Engelmann Disease	Craniofacial osteosclerosis, Limitation of joint mobility, Urinary retention, Hearing impairment,...	ORPHA:1328
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Annular pancreas, Prominent antihelix, Premature graying of hair, Hypog...	OMIM:268400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Skin ulcer, Abnormality of the spleen, ...	ORPHA:2072
Relapsing Polychondritis	Erythema, Limitation of joint mobility, Sensorineural hearing impairment, Scleritis, Hematuria, I...	ORPHA:728
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Ascites...	OMIM:306400
Gapo Syndrome	Low-set ears, Alopecia, Sparse eyebrow, Hearing impairment, Hypogonadism, Decreased skull ossific...	ORPHA:2067
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Sensorineural hearing impairment, Broad eyebrow, Thrombocytopenia, High no...	ORPHA:457351
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Carpal synostosis, Horseshoe kidney, Pancreatic cysts, Hepatosple...	OMIM:274000
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Hurler Syndrome	Hearing impairment, Cranial hyperostosis, Recurrent otitis media, Heparan sulfate excretion in ur...	OMIM:607014
Diamond-Blackfan Anemia 21	Low-set ears, Coarse hair, Horizontal eyebrow, Obesity, Erythroid hypoplasia, Protruding ear, Thr...	OMIM:620072
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia, Anemia, Conjunctivitis, Flexion contracture	OMIM:226600
Acrogeria	Excessive wrinkled skin, Skin ulcer, Fine hair, Joint hypermobility	ORPHA:2500
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Low-set ears, Osteopenia, Hypertrichosis, Elevated circulating alkaline phosphatase concentration...	OMIM:618590
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apneic episodes in infancy, Apnea	OMIM:618222
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Kerato...	ORPHA:309031
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypoglycemia, Joint contracture, Failure to thrive, Increased circulating prolactin concentration	ORPHA:35708
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Abnormal erythrocyte morphology, Superficial dermal perivascular infl...	ORPHA:324636
Fanconi Anemia	Hypospadias, Abnormality of the urinary system, Hydroureter, Hearing impairment, Recurrent urinar...	ORPHA:84
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Skin ulcer, Autoimmunity, Renal insufficiency, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Osteogenesis Imperfecta, Type Vi	Hearing impairment, Increased susceptibility to fractures, Elevated circulating alkaline phosphat...	OMIM:613982
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Hearing impairment, Aspiration pneumonia, Urinary glycosaminoglycan ex...	ORPHA:581
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Proliferating Trichilemmal Cyst	Skin ulcer, Sparse scalp hair	ORPHA:492
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Osteopenia, Sparse pubic hair, Alopecia, Sparse eyebrow, Decreased serum e...	ORPHA:2232
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Hearing impairment, Failure to thrive, Erythroderma, Pruritus, Abnormality o...	ORPHA:79394
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Tarsal sclerosis, Elevated circulating hepatic transam...	ORPHA:404454
Johnson Neuroectodermal Syndrome	Alopecia, Conductive hearing impairment, Atresia of the external auditory canal, Failure to thriv...	ORPHA:2316
Bresek Syndrome	Low-set ears, Renal hypoplasia, Alopecia, Hypoplasia of the bladder, Hearing impairment, Vesicour...	ORPHA:85284
Oslam Syndrome	Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Lymphopenia, Disse...	OMIM:614868
Mal De Meleda	Erythema, Flexion contracture, Inflammatory abnormality of the skin, Superficial dermal perivascu...	ORPHA:87503
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Small nail, Hearing impairment, Elevated circulating alkaline phosphatase ...	OMIM:239300
Dicarboxylic Aminoaciduria	Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Acrodermatitis Enteropathica	Erythema, Alopecia, Ridged fingernail, Blepharitis, Failure to thrive, Skin ulcer, Abnormal eyebr...	ORPHA:37
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypothyroidism, ...	ORPHA:1882
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ...	ORPHA:3453
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin...	OMIM:105650
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Low-set ears, Alopecia, Supernumerary nipple, Sensorineural hearing impairment, Protruding ear, P...	ORPHA:3224
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Cornelia De Lange Syndrome 1	Low-set ears, Sensorineural hearing impairment, Low posterior hairline, Ectopic kidney, Hypospadi...	OMIM:122470
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Ankle flexion contracture, Coarse hair, Low alkaline phosphatase	OMIM:619985
Severe X-Linked Intellectual Disability, Gustavson Type	Apneic episodes in infancy	ORPHA:3078
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Pili Torti	Alopecia, Hearing impairment, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality ...	ORPHA:2889
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Alopecia, Hydroureter, Cupped ear, Conductive hearing impairment, Sparse eyelashes,...	OMIM:616367
Joubert Syndrome With Hepatic Defect	Nephropathy, Highly arched eyebrow, Multicystic kidney dysplasia, Elevated circulating hepatic tr...	ORPHA:1454
Kury-Isidor Syndrome	Low-set ears, Alopecia, Hypertrichosis, Recurrent otitis media, Hydronephrosis	OMIM:619762
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea	OMIM:618291
Pontocerebellar Hypoplasia, Type 7	Apnea	OMIM:614969
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur...	ORPHA:226307
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Ascites, Portal h...	ORPHA:131
Alopecia Totalis	Type I diabetes mellitus, Inflammation of the large intestine, Alopecia totalis, Autoimmunity, Al...	ORPHA:700
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Sensorineural hearin...	OMIM:602782
Erythema Elevatum Diutinum	Skin vesicle, Skin rash, Increased circulating antibody level	ORPHA:90000
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Short Syndrome	Insulin resistance, Alopecia, Excessive wrinkled skin, Sensorineural hearing impairment, Joint hy...	ORPHA:3163
Focal Dermal Hypoplasia	Low-set ears, Erythema, Alopecia, Multicystic kidney dysplasia, Coarse metaphyseal trabecularizat...	ORPHA:2092
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Highly arched eyebrow, Long eyelashes, Decreased body weight, Micropenis, Thrombocytopenia, Hepat...	OMIM:619005
Double Outlet Right Ventricle	Hypocalcemia, Abnormality of cartilage of external ear	ORPHA:3426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Apnea	OMIM:618056
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Abnormal lymphati...	ORPHA:2330
Chronic Graft Versus Host Disease	Erythema, Alopecia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Urinary ...	ORPHA:99921
Nodular Non-Suppurative Panniculitis	Erythema, Autoimmunity, Splenomegaly, Hepatomegaly, Weight loss, Inflammatory abnormality of the ...	ORPHA:33577
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Coronal craniosynostosis, Alopecia, Fine hair, Hypogonadism	ORPHA:228390
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Neutropenia, Thrombocyt...	ORPHA:88
Estrogen Resistance	Acne, Osteopenia, Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intoleranc...	OMIM:615363
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Hearing impairment, Penetrating foot ulcers, Pathologic fracture, Osteomyelitis	ORPHA:36386
Cog8-Cdg	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia	ORPHA:95428
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Osteopenia, Hypoglycemia, Decreased response to growth hormone s...	OMIM:616007
Kabuki Syndrome 2	Low-set ears, Highly arched eyebrow, Cupped ear, Sparse lateral eyebrow, Hearing impairment, Recu...	OMIM:300867
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Periostitis, Skin ulcer, Osteomyelitis	ORPHA:2218
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myosit...	ORPHA:32960
Gm1-Gangliosidosis, Type I	Abnormality of the urinary system, Hypertrichosis, Joint stiffness, Splenomegaly, Decreased beta-...	OMIM:230500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Hypogonadism, Abnorm...	ORPHA:3253
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Blue Rubber Bleb Nevus	Pathologic fracture, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Granulomatosis With Polyangiitis	Keratitis, Skin ulcer, Episcleritis, Cytoplasmic antineutrophil antibody positivity, Weight loss,...	OMIM:608710
Viss Syndrome	Low-set ears, Increased circulating IgE level, Contracture of the proximal interphalangeal joint ...	OMIM:619472
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn...	ORPHA:1332
Temple Syndrome	Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test...	ORPHA:254516
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Large earlobe, Elevated circulating alkaline phosphatase concentration	OMIM:615716
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Redundant skin, Sparse eyelashes, Joint hypermobilit...	OMIM:230740
Chromosome 15Q25 Deletion Syndrome	Low-set ears, Polysplenia, Macrocytic anemia, Posteriorly rotated ears, Dilatation of renal calic...	OMIM:614294
Familial Tumoral Calcinosis	Erythema, Nephrocalcinosis, Hyperostosis, Skin rash, Splenomegaly, Hepatomegaly	ORPHA:53715
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea	OMIM:619580
Silver-Russell Syndrome Due To A Point Mutation	Low-set ears, Microphallus, Hypoplastic fingernail, Hypoglycemia, Hypothyroidism, Hypospadias, Sm...	ORPHA:397590
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	ORPHA:100078
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Autoimmunity, Foot joint contracture, Skin ulcer	ORPHA:220402
Bathing Suit Ichthyosis	Alopecia, Nail dystrophy, Multiple joint contractures, Erythroderma, Scaling skin, Sparse hair	ORPHA:100976
Adams-Oliver Syndrome 2	Low-set ears, Alopecia, Small nail, Low anterior hairline, Protruding ear	OMIM:614219
Mosaic Trisomy 9	Low-set ears, Limitation of joint mobility, Small nail, Camptodactyly of finger, Horseshoe kidney...	ORPHA:99776
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Urinary incontinence, Increased circulating lactat...	OMIM:232300
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Alopecia, Erythema, Small nail, Hearing impairment, Elevated 8(9)-chol...	OMIM:308050
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Glycine Encephalopathy With Normal Serum Glycine	Apnea	OMIM:617301
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc...	ORPHA:73224
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Renal hypoplasia, Nail dystrophy, Abnormal pinna morphology, Abnormality o...	ORPHA:75389
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc...	OMIM:201910
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Low-set ears, Cupped ear, Persistence of hemoglobin F, Joint hypermobility, Overfolded helix	OMIM:617101
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
3-Methylglutaconic Aciduria, Type Viii	Apnea, Hypopnea, Death in infancy, Neonatal death	OMIM:617248
Interstitial Granulomatous Dermatitis With Arthritis	Erythema, Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive,...	ORPHA:79099
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Osteogenesis Imperfecta, Type Xi	Osteopenia, Hearing impairment, Increased susceptibility to fractures, Elevated circulating alkal...	OMIM:610968
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Hematuria, Neutropenia, Abnormal penis morphology, Acute ki...	ORPHA:95455
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Anemia, Cirrhosis, Nail bed tela...	OMIM:600376
Eosinophilic Granulomatosis With Polyangiitis	Autoimmunity, Renal insufficiency, Skin rash, Increased inflammatory response, Myositis, Eosinoph...	ORPHA:183
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub...	OMIM:613986
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Monosomy 18Q	Secondary growth hormone deficiency, Bilateral conductive hearing impairment, Failure to thrive, ...	ORPHA:1600
Basilicata-Akhtar Syndrome	Precocious puberty, Low-set ears, Hearing impairment, Camptodactyly, Neonatal hypoglycemia, Abnor...	OMIM:301032
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic...	ORPHA:100085
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Petechiae, Sensorineural hearing impairment, Limited pronation/supination of for...	OMIM:605432
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy	ORPHA:35069
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio...	OMIM:114000
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Jervell And Lange-Nielsen Syndrome	Profound sensorineural hearing impairment, Iron deficiency anemia, Bilateral sensorineural hearin...	ORPHA:90647
Presynaptic Congenital Myasthenic Syndromes	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira...	ORPHA:98914
Congenital Myasthenic Syndrome	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Episodic respira...	ORPHA:590
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Prelingual sensorineural hearing impairment, Progressive sensorineural hearing impairment, Decrea...	ORPHA:436174
Wars2-Related Combined Oxidative Phosphorylation Defect	Low-set ears, Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Throm...	ORPHA:572798
Scheie Syndrome	Limitation of joint mobility, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, Mu...	ORPHA:93474
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Hermansky-Pudlak Syndrome 10	Apnea	OMIM:617050
Stuve-Wiedemann Syndrome 1	Intrauterine growth retardation, Apnea, Death in infancy	OMIM:601559
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex, Curly hair	ORPHA:85184
African Trypanosomiasis	Hepatosplenomegaly, Weight loss, Urinary incontinence, Hepatomegaly, Jaundice, Alopecia, Renal in...	ORPHA:3385
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Tracheomalacia, Abdominal situs inversus, Sparse body hair, Sparse eyel...	ORPHA:2108
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Alopecia, Renal insufficiency, Abnormal renal glomerulus morphology, Spar...	OMIM:137940
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Unusual skin infection, Renal ins...	ORPHA:73263
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Eczematoid dermatitis, Increased serum testosterone level, Thromb...	ORPHA:96181
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Small nail, Dry skin, Sparse eyelashes, Absent eyelashes, Absent eyebrow, Absent ea...	OMIM:264090
Listeriosis	Arteritis, Hearing impairment, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Unu...	ORPHA:533
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypopituitarism, Type II diabetes mellitus, Sensorineural hearing impairment, Reduced c...	OMIM:620651
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Hemolytic anemia, Joint stiffness, Black pigme...	ORPHA:56
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Flexion contracture, Sparse hair	OMIM:242300
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Sparse eyebrow, Abnormal pinna morphology, Thin bony cortex, Osteoporosis, Synophrys, Recurrent f...	OMIM:309583
Chime Syndrome	Erythema, Acute leukemia, Hearing impairment, Fine hair, Skin ulcer, Hydronephrosis, Abnormality ...	ORPHA:3474
Familial Mediterranean Fever	Nephropathy, Erythema, Nephrocalcinosis, Erysipelas, Acute hepatic failure, Ascites, Leukocytosis...	ORPHA:342
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Revesz Syndrome	Bone marrow hypocellularity, Ridged fingernail, Aplastic anemia, Fine hair, Nail dystrophy, Macro...	OMIM:268130
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Glass Syndrome	Apnea	OMIM:612313
Osteogenesis Imperfecta, Type X	Osteopenia, Recurrent pneumonia, Joint hypermobility, Generalized joint hypermobility, Decreased ...	OMIM:613848
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nucleotidase activity...	OMIM:266120
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Prelingual sensorineural hearing impairment, Psoriasiform d...	ORPHA:477
Riddle Syndrome	Decreased circulating IgG level, Dry skin	OMIM:611943
Osteogenesis Imperfecta, Type Xviii	Long eyelashes, Joint hypermobility, Thin bony cortex, Generalized osteoporosis, Recurrent fractures	OMIM:617952
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Intrauterine growth retardation, Apnea	OMIM:614653
Fibular Hemimelia	Limitation of joint mobility, Limited knee flexion/extension, Joint stiffness, Knee joint hypermo...	ORPHA:93323
Mpdu1-Cdg	Eczematoid dermatitis, Decreased response to growth hormone stimulation test, Abnormal circulatin...	ORPHA:79323
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Joint stiffness, Epiphyseal stippling, Splenomegaly, Mucopolysacchariduria	ORPHA:584
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin	ORPHA:90160
Frank-Ter Haar Syndrome	Low-set ears, Osteopenia, Cortical irregularity, Redundant neck skin, Protruding ear, Simple ear,...	OMIM:249420
Zinc Deficiency, Transient Neonatal	Alopecia, Eczematoid dermatitis, Decreased serum zinc	OMIM:608118
Craniometadiaphyseal Dysplasia	Low-set ears, Osteopenia, Sclerosis of skull base, Elevated circulating alkaline phosphatase conc...	OMIM:269300
Leprosy	Alopecia, Uveitis, Sparse body hair, Penetrating foot ulcers, Abnormality of the spleen, Abnormal...	ORPHA:548
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Low-set ears, Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concent...	OMIM:201750
Aromatic L-Amino Acid Decarboxylase Deficiency	Apnea	OMIM:608643
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Polycythemia, Hepatic arteriovenous malformation, Anemia, Cirrhosis, Nail bed tela...	OMIM:187300
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Acquired Von Willebrand Syndrome	Normocytic anemia, Hypochromic anemia, Hematuria, Joint hemorrhage, Refractory anemia	ORPHA:99147
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Alopecia, Central adrenal insufficiency, Hypogonadotropic hypogonadism, De...	OMIM:612079
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Sensorineural hearing impairment, Thicke...	OMIM:144750
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Hypospadias, Alopecia, Erythroderma	OMIM:618840
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Tachypnea, Apnea	ORPHA:397715
Von Willebrand Disease, Type 3	Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ...	OMIM:601399
Fanconi Anemia, Complementation Group B	Low-set ears, Aplastic anemia, Renal agenesis, Hypogonadism, Thrombocytopenia, Micropenis, Overfo...	OMIM:300514
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal helix morphology, Synostosis of carpal bones, Low-set, posteriorly rotated ear...	ORPHA:1005
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Cockayne Syndrome B	Dry hair, Limitation of joint mobility, Abnormal auditory evoked potentials, Small for gestationa...	OMIM:133540
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Abnormal hair morphology, Autoimmune hemolytic anemia, Low a...	ORPHA:647
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Skin ulcer, Stiff n...	ORPHA:68
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Urinary incontinence, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Acral ulcer...	OMIM:613115
Plague	Inflammation of the large intestine, Lymphadenitis, Hearing impairment, Chapped lip, Skin ulcer, ...	ORPHA:707
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Hearing impa...	OMIM:241080
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Papillary renal cell c...	ORPHA:363618
Hermansky-Pudlak Syndrome 5	Albinism, Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytop...	OMIM:614074
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal dysplasia, Bile duct pro...	OMIM:208540
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Low-set ears, Highly arched eyebrow, Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, H...	OMIM:220111
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Decreased circulating IgG level, Highly arched eyebrow, Cupped ear, Failure to thri...	OMIM:617062
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Hearing impairment, Hypoplastic fingernail, Vesicoureteral reflux, Elevated circulating alkaline ...	OMIM:614749
Orofaciodigital Syndrome Type 6	Episodic tachypnea, Apnea	ORPHA:2754
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Alopecia, Graves disease, Hypogonadism, Abnormality of the thyroid glan...	ORPHA:3143
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Auto...	ORPHA:79128
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ...	OMIM:129400
Björnstad Syndrome	Hypogonadism, Sensorineural hearing impairment, Alopecia, Brittle hair	ORPHA:123
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Erythema nodosum, Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis	OMIM:612387
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia, Hydronephrosis, Posteriorly rotated ears, Hypospadias, Microtia	OMIM:300712
Genitopatellar Syndrome	Apnea	ORPHA:85201
Cardiogenic Shock	Hepatomegaly, Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Alopecia, Osteolysis	OMIM:176670
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Localized Scleroderma	Erythema, Abnormal skin adnexa morphology, Fasciitis, Sclerosis of finger phalanx, Esophagitis, A...	ORPHA:90289
Chops Syndrome	Coarse hair, Tracheomalacia, Hearing impairment, Aspiration pneumonia, Horseshoe kidney, Long eye...	OMIM:616368
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Cupped ear, Small nail, Supernumerary nipple, Elevated circulating alkalin...	ORPHA:247262
Ane Syndrome	Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo...	ORPHA:157954
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Apnea, Hypopnea, Hypoventilation	OMIM:619482
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hereditary Mucoepithelial Dysplasia	Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Sparse hair	ORPHA:1839
Autosomal Recessive Spastic Paraplegia Type 77	Sudden episodic apnea	ORPHA:466722
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea	OMIM:617527
Silver-Russell Syndrome	Premature adrenarche, Low-set ears, Precocious puberty, Abnormality of the urinary system, Insuli...	ORPHA:813
Plaa-Associated Neurodevelopmental Disorder	Apnea	ORPHA:521426
Distal Deletion 19P	Alopecia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Thick eyebrow, Joint ...	ORPHA:96129
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Palmoplantar erythema, Brittle hair, Spars...	OMIM:104100
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma, Skin ulcer	ORPHA:312
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin	ORPHA:90156
Spondyloocular Syndrome	Low-set ears, Osteopenia, Sensorineural hearing impairment, Low posterior hairline, Femur fractur...	OMIM:605822
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Hepatic sinusoidal dilatation, Tracheomalacia, Long eyelashes, Splenic cys...	OMIM:620371
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Scleromyxedema	Paraproteinemia, Pruritus, Abnormality of the kidney, Elevated circulating creatine kinase concen...	ORPHA:167635
Mucopolysaccharidosis Type 1	Apnea	ORPHA:579
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased uri...	ORPHA:31826
Peutz-Jeghers Syndrome	Bladder polyp, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, Iron defici...	OMIM:175200
Eiken Syndrome	Delayed epiphyseal ossification, Elevated circulating alkaline phosphatase concentration, Decreas...	OMIM:600002
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Hepatomegaly...	OMIM:257220
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Atelis Syndrome 2	Low-set ears, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, P...	OMIM:620185
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin...	OMIM:202200
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Abnormalit...	ORPHA:3320
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Nail dystrophy, Congenital abnormal hair pattern	ORPHA:1867
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Small nail, Macrotia, Large for gestational age, Hypoplastic toenails, ...	ORPHA:544488
Xeroderma Pigmentosum	Aminoaciduria, Craniofacial hyperostosis, Alopecia, Erythema, Keratitis, Hearing impairment, Fail...	ORPHA:910
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Absent pubi...	ORPHA:2269
Brooke-Spiegler Syndrome	Skin ulcer, Hearing impairment, Skin appendage neoplasm, Cylindroma, Trichoepithelioma	ORPHA:79493
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Hyperkeratosis Lenticularis Perstans	Pruritus, Skin ulcer	ORPHA:409
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Apnea	ORPHA:395
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Slender build, Hypospadias, Macrotia, Precocious pube...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Slender build, Hypospadias, Macrotia, Precocious pube...	ORPHA:363958
Mucolipidosis Type Ii	Dry hair, Limitation of joint mobility, Conductive hearing impairment, Fine hair, White hair, Dec...	ORPHA:576
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse body hair, Ascites, Abnormality of the lymphatic system, Absent eyelashes, Absen...	ORPHA:69735
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Vici Syndrome	Decreased circulating IgG level, Joint stiffness, Renal tubular acidosis, Decreased circulating I...	ORPHA:1493
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Joint stiffness, Abnormal hemoglobin, Infectious encephalitis...	ORPHA:847
Intellectual Developmental Disorder, Autosomal Dominant 54	Hyperventilation, Apnea	OMIM:617799
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia, Petechiae, Ecchymosis, Hematuria, Bilateral sensorineural h...	ORPHA:853
Dyskeratosis Congenita, Autosomal Recessive 6	Bone marrow hypocellularity, Alopecia, Failure to thrive, Nail dystrophy, Sparse hair	OMIM:616353
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea	ORPHA:2131
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Failure to thrive, Thick eyebrow, Decreased body weight, Protruding ear, Patchy a...	OMIM:300534
Keutel Syndrome	Recurrent otitis media, Alopecia, Hearing impairment, Recurrent sinusitis	ORPHA:85202
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Joint stiffness, Nail dystrophy, Lack of skin elasticity	ORPHA:1366
Jacobsen Syndrome	Low-set ears, Annular pancreas, Failure to thrive, Thrombocytopenia, Abnormal eyelash morphology,...	OMIM:147791
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Frontal balding, Decreased circ...	ORPHA:64
Buerger Disease	Skin ulcer	ORPHA:36258
Adult Polyglucosan Body Disease	Limitation of joint mobility, Skin ulcer, Urinary bladder sphincter dysfunction, Neurogenic bladd...	ORPHA:206583
Idiopathic Localized Lipodystrophy	Pruritus, Scaling skin, Inflammatory abnormality of the skin, Erythema	ORPHA:90158
Marshall-Smith Syndrome	Apnea, Death in childhood	OMIM:602535
Jacobsen Syndrome	Aplasia/Hypoplasia of the earlobes, Bone marrow hypocellularity, Multicystic kidney dysplasia, An...	ORPHA:2308
Glucocorticoid Deficiency 2	Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abno...	OMIM:607398
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Low-set ears, Long eyelashes, Obesity, Broad lateral eyebrow, Mixed hearing impairment, Overfolde...	OMIM:608624
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Iron deficiency anemia, Brain abscess, Liver abscess	ORPHA:2038
Joubert Syndrome 2	Episodic tachypnea, Central apnea	OMIM:608091
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Recurrent otitis media, Joint...	OMIM:261990
Osteopetrosis, Autosomal Dominant 1	Conductive hearing impairment, Thickened cortex of long bones, Generalized osteosclerosis, Osteop...	OMIM:607634
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Erysipelas, Skin ulcer, Abnormal hair morphology, Dry skin, Leukonychia, Abnormal toenail morphol...	ORPHA:2526
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn...	ORPHA:3206
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Oroticaciduria, Elevated circulating aspartate aminotransferase concentration,...	OMIM:311250
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Osteopenia, Alopecia, Abnormal circulating calcium-phosphate regulating hormone con...	ORPHA:2636
Roberts Syndrome	Long penis, Synostosis of carpal bones, Absent earlobe, Knee flexion contracture, Radioulnar syno...	ORPHA:3103
Orofaciodigital Syndrome I	Low-set ears, Hepatic fibrosis, Alopecia, Dry hair, Hearing impairment, Pancreatic cysts, Hepatic...	OMIM:311200
Tarp Syndrome	Intrauterine growth retardation, Apnea	ORPHA:2886
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia, Thyroid carcinoma, Joint hypermobility, Hashimoto thyroiditis, Cachexia, Macrotia, ...	ORPHA:109
Hereditary Acrokeratotic Poikiloderma	Erythema, Abnormality of the urethra, Dystrophic toenail, Eczematoid dermatitis, Camptodactyly of...	ORPHA:2907
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424019
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Low-set ears, Highly arched eyebrow, Juvenile myelomonocytic leukemia, Fine hair, Failure to thri...	OMIM:613563
Schinzel-Giedion Midface Retraction Syndrome	Low-set ears, Increased density of long bones, Hydroureter, Failure to thrive, Ureteral stenosis,...	OMIM:269150
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Low-set ears, Hypoglycemia, Supernumerary nipple, Contracture of the proximal interphalangeal joi...	ORPHA:457279
Elliptocytosis 1	Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Ectodermal Dysplasia-Blindness Syndrome	Hearing impairment, Fine hair, Skin ulcer, Abnormal fingernail morphology, Protruding ear, Kerato...	ORPHA:1806
Brachytelephalangic Chondrodysplasia Punctata	Tachypnea, Central apnea	ORPHA:79345
Schwartz-Jampel Syndrome	Apnea, Death in infancy	ORPHA:800
Xp21 Deletion Syndrome	Apneic episodes in infancy	ORPHA:261476
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Prominent ear helix, Alopecia totalis, Limited hip movement, Severe...	ORPHA:740
Joubert Syndrome 1	Episodic tachypnea, Central apnea	OMIM:213300
Shprintzen-Goldberg Syndrome	Apnea	ORPHA:2462
Ivic Syndrome	Hearing impairment, Carpal synostosis, Leukocytosis, Limited elbow movement, Radioulnar synostosi...	OMIM:147750
Velocardiofacial Syndrome	Hypoparathyroidism, Hypocalcemia, Impaired T cell function	OMIM:192430
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Osteopenia, Congenital hypothyroidism, Limited elbow extension, ...	OMIM:271510
Malakoplakia	Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Urinary hesitancy...	ORPHA:556
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea	OMIM:261740
Weill-Marchesani Syndrome 2	Elbow flexion contracture, Striae distensae, Joint stiffness, Lack of skin elasticity, Thin bony ...	OMIM:608328
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Neonatal hypoglycemia, Skin rash	OMIM:617600
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Steinert Myotonic Dystrophy	Insulin resistance, Alopecia, Male hypogonadism, Elevated circulating hepatic transaminase concen...	ORPHA:273
Oculocerebrocutaneous Syndrome	Abnormal fingernail morphology, Alopecia, Abnormal pinna morphology, Hearing impairment	ORPHA:1647
Ivic Syndrome	Synostosis of carpal bones, Hearing impairment, Joint stiffness, Leukocytosis, Radioulnar synosto...	ORPHA:2307
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea	OMIM:617239
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Episcleritis, Skin rash, Renal insufficiency, Infectious encephalitis, Pust...	ORPHA:761
Mosaic Variegated Aneuploidy Syndrome	Intrauterine growth retardation, Apnea	ORPHA:1052
Congenital Tracheomalacia	Dyspnea, Apnea, Intercostal retractions	ORPHA:95430
Structural Heart Defects And Renal Anomalies Syndrome	Low-set ears, Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Perlman Syndrome	Low-set ears, Visceromegaly, Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest...	OMIM:267000
Frontonasal Dysplasia 2	Low-set ears, Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Craniosynostosis, Sp...	OMIM:613451
Bohring-Opitz Syndrome	Intrauterine growth retardation, Apnea	ORPHA:97297
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Abnormal hair morphology, Scleritis, Absent eyebrow, Abnormality of the kidney, Sparse ...	ORPHA:2273
Mhc Class I Deficiency 1	Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis	OMIM:604571
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Failure to thrive, Onychogryposis of toenails, Fingernail...	ORPHA:2309
Histiocytoid Cardiomyopathy	Failure to thrive, Hypoglycemia, Pallor, Cardiomegaly, Renal cyst, Hepatomegaly	ORPHA:137675
Costello Syndrome	Low-set ears, Tracheomalacia, Failure to thrive, Hypoglycemia, Hyperextensibility of the finger j...	OMIM:218040
Neurooculorenal Syndrome	Ectopic posterior pituitary, Highly arched eyebrow, Unilateral renal agenesis, Hypoplasia of the ...	OMIM:620305
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Overweight, Increased size of nasopharyngeal adenoids, Persistence of hemogl...	OMIM:619769
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Sensorineural hearing impairment, Hypoglycemia, Elbow contracture	OMIM:620275
Bartsocas-Papas Syndrome 1	Low-set ears, Alopecia, Cupped ear, Small nail, Alopecia totalis, Dry skin, Absent eyelashes, Abs...	OMIM:263650
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Keratoconjunctivitis s...	OMIM:617321
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractu...	ORPHA:793
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf...	OMIM:250790
Joubert Syndrome 21	Dyspnea, Apnea	OMIM:615636
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Osteopathia Striata With Cranial Sclerosis	Apnea	OMIM:300373
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Failure to thrive, Palmoplantar scaling skin, Nail dystrophy, Sparse ey...	OMIM:605676
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Increased circulating prolactin concentration, Recurrent otitis media, Slender buil...	ORPHA:3455
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Bilateral Perisylvian Polymicrogyria	Intrauterine growth retardation, Apnea	ORPHA:98889
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia, Congenital foot con...	ORPHA:565624
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Dry skin, Splenomegaly, Defective production of NFKB1-dependent cytokines, Hep...	OMIM:612132
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer	ORPHA:743
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Skin vesicle, Hypoplastic fingernail	ORPHA:257
Bartsocas-Papas Syndrome	Synostosis of joints, Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Renal h...	ORPHA:1234
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Foot osteomyelitis, Ac...	OMIM:256840
Hereditary Hemorrhagic Telangiectasia	Hepatic failure, Cholelithiasis, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia	OMIM:242510
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ...	ORPHA:978
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Osteomyelitis, Acral ulceration, Foot osteomyelitis, Sensorineural hearing impairment	OMIM:162400
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Urinary incontinence, Alopecia	OMIM:600142
Charge Syndrome	Low-set ears, Lymphopenia, Sensorineural hearing impairment, Hypoparathyroidism, Parathyroid hypo...	OMIM:214800
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Autoimmunity, Increased circulating antibody level	ORPHA:83600
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Hypothyroidism, Delayed puberty, Ad...	ORPHA:95496
Generalized Arterial Calcification Of Infancy	Hearing impairment, Osteomalacia, Adrenal calcification, Sensorineural hearing impairment, Pancre...	ORPHA:51608
Gallbladder Neuroendocrine Tumor	Elevated gamma-glutamyltransferase level, Biliary tract neoplasm, Neuroendocrine neoplasm, Ascite...	ORPHA:100086
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Sacroiliac...	ORPHA:85436
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Hyperventilation, Central apnea	ORPHA:522077
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Micropenis, Hypoglycemia, Low anterior hairline	OMIM:620224
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Precocious puberty, Insulin resistance, Small for gestational age, Failure ...	ORPHA:96182
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Small nail, Abnormal hair morphology, Thin nail	OMIM:242100
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Ectopic anterior pituitary gland, Hypoglycemia, Hypopitu...	ORPHA:90695
Diethylstilbestrol Syndrome	Central apnea	ORPHA:1916
Scalp-Ear-Nipple Syndrome	Low-set ears, Underdeveloped tragus, Dry skin, Sparse hair, Sparse pubic hair, Breast aplasia, Re...	OMIM:181270
Meige Disease	Skin ulcer, Absence of lymph node germinal center, Lymph node hypoplasia, Recurrent skin infectio...	ORPHA:90186
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea	ORPHA:98754
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Parkes Weber Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Abnormality of the urinary system,...	ORPHA:90307
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Nail dystrophy, Nail dysplasia, Pruritus, Flexion...	OMIM:614594
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea	ORPHA:98793
Chikungunya	Periostitis, Erythema, Cervical lymphadenopathy, Joint stiffness, Skin rash, Maculopapular exanth...	ORPHA:324625
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea	ORPHA:177904
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea	ORPHA:177901
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Hypoplastic fifth fingernail, Elevated circulating alkaline phosphatase concentration, Sensorineu...	OMIM:614207
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Vesico...	OMIM:130650
Weill-Marchesani Syndrome 1	Joint stiffness, Thin bony cortex	OMIM:277600
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Scaling skin on fingertip, Onychogryposis	ORPHA:79395
Olmsted Syndrome 2	Sparse hair, Alopecia universalis, Flexion contracture of digit, Woolly hair, Pruritus, Cheilitis	OMIM:619208
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Gastrointestinal Stromal Tumor	Anemia, Abnormality of the liver, Skin rash	ORPHA:44890
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Vesicoureteral reflux, Uplifted earlobe, Elevated circulating alkaline phos...	OMIM:618548
Phakomatosis Pigmentokeratotica	Precocious puberty, Pheochromocytoma, Hypophosphatemic rickets, Unilateral renal hypoplasia, Neph...	ORPHA:2874
Autosomal Recessive Robinow Syndrome	Alopecia, Multicystic kidney dysplasia, Synostosis of carpal bones, Hearing impairment, Camptodac...	ORPHA:1507
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	OMIM:606002
Campomelic Dysplasia	Respiratory distress, Apnea	OMIM:114290
Behçet Disease	Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, Infectious encephalitis, Increa...	ORPHA:117
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Low posterior hairline, Hepatoblastoma, Iron deficiency anemia, Abnormality of the kidney, Early ...	ORPHA:261584
Joubert Syndrome 5	Episodic tachypnea, Central apnea	OMIM:610188
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Dry skin, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Scaling skin	OMIM:618373
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea	ORPHA:2751
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Olmsted Syndrome, X-Linked	Alopecia totalis, Subungual hyperkeratosis, Posterior blepharitis, Blepharitis	OMIM:300918
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Ketonuria	OMIM:616095
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Abnormal eyelash morphology, Bone cyst, Osteolysis	ORPHA:2396
Unilateral Polymicrogyria	Apnea	ORPHA:268943
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Abnormal circulating enzyme concentration or activity,...	ORPHA:25
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Slc39A8-Cdg	Sudden episodic apnea	ORPHA:468699
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Erythema, Periodontitis, Camptodactyly of finger,...	ORPHA:2908
Lethal Acantholytic Erosive Disorder	Abnormal helix morphology, Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyela...	ORPHA:158687
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Eczematoid dermatitis, Hypocalcemia, Joint hypermobility, Hydronephrosis, Pr...	OMIM:620330
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Osteopenia, Anterior pituitary agenesis, Ectopic anterior pituitary ...	ORPHA:95494
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Hepatic arteriovenous malformation	OMIM:175050
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hearing impairment, Dry skin, Absent eyelashes, Absent eyebrow, Ery...	OMIM:308205
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Foot acroosteolysis, Painless fractures due to injury, Acral ulceration, Osteolytic defects of th...	OMIM:201300
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Dry skin, Psoriasiform dermatitis, Chron...	ORPHA:69085
Noonan Syndrome 1	Low-set ears, Juvenile myelomonocytic leukemia, Hearing impairment, Hypogonadism, Failure to thri...	OMIM:163950
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Low-set ear...	ORPHA:3107
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Dermal translucency, Alopecia, Periodontitis, Cystocele, Redu...	ORPHA:286
Neuropathy, Hereditary Sensory And Autonomic, Type V	Urinary incontinence, Painless fractures due to injury, Osteomyelitis, Acral ulceration, Osteoart...	OMIM:608654
Cerebral Visual Impairment	Neonatal hypoglycemia, Infectious encephalitis	ORPHA:447788
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set ears, Decreased circulating IgG level, Sparse eyebrow, Unilateral renal agenesis, Hearing...	ORPHA:500150
Ring Chromosome 13 Syndrome	Alopecia, Primary hypothyroidism, Posteriorly rotated ears, Urogenital sinus anomaly, Hypoplasia ...	ORPHA:96176
Satoyoshi Syndrome	Alopecia universalis, Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ova...	ORPHA:3130
Trichinellosis	Increased circulating IgE level, Conjunctivitis, Tinnitus, Skin rash	ORPHA:863
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Dry skin, Lymphadenopathy, Neutr...	OMIM:617827
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Limitation of joint mobility, Low-set, posteriorly rotated ears, Slender build, L...	ORPHA:457359
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Camptodactyly of finger, Sy...	OMIM:186580
Faciocardiomelic Syndrome	Osteopenia, Large for gestational age, Thin bony cortex, Short eyelashes	OMIM:612731
Wolfram Syndrome	Central apnea	ORPHA:3463
Aspartylglucosaminuria	Pathologic fracture, Aspartylglucosaminuria, Joint hypermobility, Reduced tissue aspartylglucosam...	OMIM:208400
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Hearing impairment, Thin bony cortex	OMIM:619727
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conductive hearing impairment, Atresia of the external auditory canal, Supernumerary nipple, Spar...	OMIM:106260
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Alopecia, Pelvic kidney	OMIM:613001
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Failure to thrive, Chapped lip, Recurrent s...	ORPHA:158668
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin, Joint hypermobility	OMIM:619543
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Apnea, Hypoventilation	ORPHA:438213
Leukemia, Chronic Myeloid	Chronic myelogenous leukemia, Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphobla...	OMIM:608232
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Cysticercosis	Stiff neck, Infectious encephalitis, Increased circulating antibody level, Iridocyclitis, Increas...	ORPHA:1560
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Nail dystrophy, Acral ulceration, Nail dysplasia, Sparse scalp hair	OMIM:256800
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Semilobar Holoprosencephaly	Central apnea, Abnormal pattern of respiration	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Abnormal pattern of respiration	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Abnormal pattern of respiration	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Abnormal pattern of respiration	ORPHA:93924
Behcet Syndrome	Erythema, Patchy alopecia, Iridocyclitis, Erythema nodosum, Arthritis, Decreased level of D-manno...	OMIM:109650
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Absent fingernail, Alopecia totalis	OMIM:609638
17Q11 Microdeletion Syndrome	Precocious puberty, Osteopenia, Low-set ears, Elevated circulating parathyroid hormone level, Phe...	ORPHA:97685
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Hypermobile Ehlers-Danlos Syndrome	Apnea	ORPHA:285
Sympathetic Ophthalmia	Posterior uveitis, Erythema, Alopecia, Hearing impairment, Tinnitus, Poliosis	ORPHA:79098
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Thickened cortex of long bones, Micropenis, Abnormal pinna morphology	ORPHA:488434
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers, Sensorineural hearing impairment	ORPHA:99956
Renal Agenesis, Bilateral	Low-set ears, Nonketotic hypoglycemia, Renal agenesis	ORPHA:1848
Spondyloepimetaphyseal Dysplasia, X-Linked	Abnormality of alkaline phosphatase level, Limited elbow extension, Delayed ossification of carpa...	OMIM:300106
Pallister-Killian Syndrome	Low-set ears, Sparse eyebrow, Alopecia, Camptodactyly of 2nd-5th fingers, Hearing impairment, Sup...	OMIM:601803
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Exertional dyspnea, Paroxysmal dyspnea, Apneic episodes in infancy	ORPHA:99125
Trichotillomania	Alopecia	OMIM:613229
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Lymphadenopathy	ORPHA:424016
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer, Recurrent loss of toenails and fingernails, Nail dystrophy	OMIM:245660
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral dens...	OMIM:620558
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	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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