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Gene: Asah1 MGI:1277124

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

N-acylsphingosine amidohydrolase 1

Synonyms:

acid ceramidase, 2310081N20Rik

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 Asah1 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 Asah1 (4 diseases)
Human diseases predicted to be associated with Asah1 (2445 diseases)

The table below shows human diseases associated to Asah1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N...	ORPHA:333
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Flexion contr...	ORPHA:2590
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Recurrent respiratory infections, Progressive distal muscular atrophy, S...	OMIM:159950

The table below shows human diseases predicted to be associated to Asah1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb...	OMIM:614470
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Eosinophilia, Facial palsy, Elevated circulating creatine kinase conc...	OMIM:253600
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-posi...	OMIM:269840
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Elevated circulating crea...	ORPHA:267
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Waddling gait, Lumbar hyperlordosis, Elevated circulating creatine kinase c...	ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevate...	OMIM:254110
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k...	OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat...	OMIM:601954
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Decreased circulating total IgM, Monocytosis, Po...	OMIM:619281
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Roifman Syndrome	Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Eosinophilia, Short stature...	ORPHA:353298
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally...	OMIM:608358
Myasthenic Syndrome, Congenital, 14	Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-...	OMIM:616228
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Cryptorchi...	OMIM:618484
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Centrally nuclea...	OMIM:618129
Immunodeficiency 15B	Failure to thrive, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic...	OMIM:615592
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Pneumonia, Eosinophilia, Thrombocyt...	OMIM:226990
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Hypoplasia of the femoral head, Pn...	OMIM:209950
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina...	OMIM:613818
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam...	ORPHA:400
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Waddling gait, Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dys...	ORPHA:34515
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Elevated circulating cr...	OMIM:619733
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent resp...	OMIM:615615
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple...	OMIM:603552
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Thoracic scoliosis, Elevated circ...	ORPHA:62
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl...	OMIM:615424
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Flexion...	OMIM:603511
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Elevated circulating cr...	OMIM:181350
Miyoshi Muscular Dystrophy 1	Elevated circulating creatine kinase concentration, Distal amyotrophy, Tip-toe gait, Muscular dys...	OMIM:254130
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati...	OMIM:604286
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Elevated circulating creatine kina...	OMIM:609308
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Hepatomegaly, Respiratory distress, Elevated hepatic transaminase, Ataxia, Elevated c...	OMIM:608799
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:620286
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral...	ORPHA:168621
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Myopathy, Myofibrillar, 6	Scapular winging, Thoracic scoliosis, Elevated circulating creatine kinase concentration, Facial ...	OMIM:612954
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in...	OMIM:608423
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati...	OMIM:615895
Myopathy, Distal, 3	Split hand, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J...	OMIM:610099
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac...	ORPHA:370980
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Muscular Dystrophy, Congenital, 1B	Facial palsy, Elevated circulating creatine kinase concentration, Spinal rigidity, Achilles tendo...	OMIM:604801
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu...	OMIM:616199
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Autoinflammatory-Pancytopenia Syndrome	Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal infla...	OMIM:619858
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Roifman Syndrome	Hip contracture, Hepatomegaly, Short metacarpal, Short stature, Eosinophilia, Postnatal growth re...	OMIM:616651
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, ...	OMIM:616719
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Respiratory insufficiency, Leukopen...	OMIM:613845
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r...	OMIM:613204
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator...	OMIM:607616
Myopathy, Myofibrillar, 2	Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m...	OMIM:608810
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl...	ORPHA:486815
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Inc...	OMIM:617872
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Ab...	OMIM:620282
Myopathy, Distal, Tateyama Type	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy, ...	OMIM:253601
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:601846
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentrati...	OMIM:255160
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy...	OMIM:235900
Muscular Dystrophy, Congenital, Lmna-Related	Hip contracture, Elbow contracture, Elevated circulating creatine kinase concentration, Spinal ri...	OMIM:613205
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Waddling gait, Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, E...	ORPHA:353
Omenn Syndrome	Hepatomegaly, Failure to thrive, Pneumonia, Edema, Eosinophilia, Splenomegaly, Leukocytosis, Shor...	ORPHA:39041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, ...	OMIM:613156
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphedema, Leukocytosis, He...	OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Facial palsy, Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Calf...	OMIM:611307
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Dehy...	ORPHA:79312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinase concentration, V...	OMIM:606612
Poems Syndrome	Sclerosis of hand bone, Edema, Hypothyroidism, Polycythemia, Sclerosis of foot bone, Pericardial ...	ORPHA:2905
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6	Scapular winging, Elevated circulating creatine kinase concentration, Proximal amyotrophy, Calf m...	OMIM:601287
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con...	ORPHA:610
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia...	OMIM:304790
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short metacarpal, Ataxia, Elevated circulating creatine kinase concentra...	OMIM:248800
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta...	OMIM:612999
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Congenital Myopathy 18	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F...	OMIM:620246
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Waddling gait, Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centra...	OMIM:617760
King-Denborough Syndrome	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Central...	OMIM:619542
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leukemia, Histiocytosis	ORPHA:157991
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hepatic steatosis, Lumbar hyperlordosis, Elevated circulating creatine k...	OMIM:615980
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine aminotransferase concentra...	OMIM:613759
Rhabdomyolysis, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R...	OMIM:620235
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Miyoshi Muscular Dystrophy 3	Elevated circulating creatine kinase concentration, Quadriceps muscle atrophy, Quadriceps muscle ...	OMIM:613319
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Neonatal respiratory distress, Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased ...	OMIM:226670
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Generalized limb muscle atrophy, Hepatosplenomegaly, Gait ataxia, Progress...	ORPHA:466794
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic fail...	ORPHA:75233
Muscular Dystrophy, Limb-Girdle, Type 1H	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C...	OMIM:613530
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Edema, Congenital hypop...	ORPHA:77297
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Dpm3-Cdg	Elevated hepatic transaminase, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle ...	ORPHA:263494
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly	ORPHA:2274
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration...	OMIM:613723
Myopathy, Centronuclear, 4	Abnormal circulating creatine kinase concentration, Type 1 muscle fiber predominance, Centrally n...	OMIM:614807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of...	OMIM:608807
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Chronic he...	OMIM:618278
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere...	OMIM:615387
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Eleva...	ORPHA:264580
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent respiratory in...	OMIM:300635
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:603909
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, I...	OMIM:611705
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Abnormal pleura morphology, Limitation of joint mobility, Arthritis, Lymphopenia	ORPHA:2582
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort...	ORPHA:178464
Myopathy, Myofibrillar, 8	Scapular winging, Reduced vital capacity, Elevated circulating creatine kinase concentration, Cen...	OMIM:617258
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypertriglyceridemia, Eleva...	ORPHA:79240
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm...	ORPHA:331206
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Nonaka Myopathy	Elevated circulating creatine kinase concentration, Distal amyotrophy, Gait disturbance, EMG: myo...	OMIM:605820
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Flexion contracture, Increased laxity of ankles, Muscle fiber necrosi...	OMIM:254090
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Sandal gap, Elevated circulating creatine kinase con...	ORPHA:79322
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina...	ORPHA:277
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Limb...	OMIM:615352
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Hyperlordosis, Myopathy, Restrictive ...	ORPHA:369840
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hypoplasia of t...	ORPHA:231226
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Elevated circulating creatine k...	OMIM:617072
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Increas...	ORPHA:169160
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C...	ORPHA:54251
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R...	OMIM:619518
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Steppage gait, Increased total ir...	OMIM:613280
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Mitochondrial Myopathy With Diabetes	Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber...	OMIM:500002
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Classic Galactosemia	Reduced bone mineral density, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insuffi...	ORPHA:79239
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ...	ORPHA:266
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Elevated circulating creatine kinase concentration, Kyphoscoliosis, Respiratory insufficiency due...	OMIM:607855
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Syndactyly, Postnatal growth retardation, Hem...	ORPHA:2169
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Macroglossia, Calf m...	OMIM:616827
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr...	OMIM:251880
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Hypoglycosylation of alpha-dystroglycan, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615350
Bowen-Conradi Syndrome	Short stature, Camptodactyly of finger, Rocker bottom foot, Joint stiffness, Cryptorchidism, Abno...	ORPHA:1270
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Reduced forced vital capacit...	OMIM:617066
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Increased circulating IgE level...	OMIM:618523
Muscular Dystrophy, Progressive Pectorodorsal	Scapular winging, Shoulder girdle muscle weakness, Elevated circulating creatine kinase concentra...	OMIM:310095
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Congenital Myopathy 3 With Rigid Spine	Reduced vital capacity, Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleat...	OMIM:602771
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Eczema, Thrombocytopenia	OMIM:614493
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp...	ORPHA:14
Alveolar Echinococcosis	Liver abscess, Cholangitis, Pedal edema, Renal cyst, Portal hypertension, Abnormal mesentery morp...	ORPHA:284
Inclusion Body Myositis	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe...	ORPHA:611
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Elevated circulating creatine kinase concentration, Achilles tendon contracture, El...	OMIM:608840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Elevated circulating creatine kinase concentration, Inability to walk, Flexion cont...	OMIM:613155
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Arthritis, Celluliti...	ORPHA:3165
Welander Distal Myopathy	Distal amyotrophy, Steppage gait, Mildly elevated creatine kinase, Rimmed vacuoles	OMIM:604454
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati...	OMIM:613179
Spinal Muscular Atrophy, Type Iv	Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr...	OMIM:271150
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant	Elevated circulating creatine kinase concentration, Muscular dystrophy, Proximal amyotrophy	OMIM:612998
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Stiff interphalangeal joints, Lethargy, Hypothyroidism, Hepatomegaly, Hypogonadotro...	ORPHA:465508
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynostosis, Eosinophil...	OMIM:147060
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12	Limb-girdle muscle weakness, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:616094
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Distal renal tubular acidosis, Ric...	OMIM:611590
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Decreased proportion of...	OMIM:619126
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ...	OMIM:611588
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Leukocytosis, Weight ...	ORPHA:2070
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Propionic Acidemia	Hepatomegaly, Pancytopenia, Dystonia, Short stature, Increased level of hippuric acid in urine, T...	OMIM:606054
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Decreased circulating an...	ORPHA:33355
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Congenital hip dislocation, Ankle flexion contracture, Centrally nucleat...	OMIM:117000
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Failure to thrive, Elbow ...	OMIM:620310
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Apnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency, Respiratory...	OMIM:613869
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Failure to thrive in infancy, Card...	ORPHA:858
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Recurrent upper respira...	OMIM:617585
Aredyld Syndrome	Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia...	ORPHA:1133
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Thromb...	ORPHA:3319
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia,...	OMIM:102700
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab...	ORPHA:229717
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive, Anemia	ORPHA:28
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Decreased methionine synthase activit...	OMIM:614857
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Highly elevated creatine kinase, Myopathy, Increased variability in muscle fiber diameter, Centra...	OMIM:618992
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, Gait ataxia, T lymphocytopenia, Neutropeni...	ORPHA:572
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytopenia...	ORPHA:508533
Facioscapulohumeral Muscular Dystrophy 1	Skeletal muscle atrophy, Scapular winging, Facial palsy, Elevated circulating creatine kinase con...	OMIM:158900
Proximal Myopathy With Extrapyramidal Signs	Ataxia, Centrally nucleated skeletal muscle fibers, Difficulty walking, Increased variability in ...	ORPHA:401768
Marinesco-Sjögren Syndrome	Skeletal muscle atrophy, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis,...	ORPHA:559
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Dystonia, Thrombocytopenia, Hyperammonemia, Growth delay, Chor...	ORPHA:289916
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenom...	OMIM:269920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosi...	OMIM:607155
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Hyperlordosis, Skeletal muscle hypertrophy, C...	OMIM:613157
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Short stature, Eosinophilia, Hepatosplenomegaly, Nephrotic syndr...	OMIM:618999
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B c...	ORPHA:3261
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased circulating cerul...	OMIM:616828
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:613152
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash...	OMIM:617591
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Congenital Myopathy 22A, Classic	Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Centrally nucleated skeleta...	OMIM:620351
Muscular Dystrophy, Duchenne Type	Waddling gait, Hypoventilation, Calf muscle pseudohypertrophy, Elevated circulating creatine kina...	OMIM:310200
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ...	OMIM:619487
Muscular Dystrophy, Becker Type	Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, Muscular dystr...	OMIM:300376
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k...	OMIM:618655
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu...	OMIM:231100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas...	OMIM:618987
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Respiratory ...	ORPHA:169189
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Splenomegaly, Micronodular cir...	OMIM:606003
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydroc...	OMIM:610333
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ...	ORPHA:369
Myopathy, Myofibrillar, 5	Waddling gait, Elevated circulating creatine kinase concentration, Respiratory insufficiency, Mus...	OMIM:609524
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen...	OMIM:256030
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:615486
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ...	OMIM:616812
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie...	ORPHA:598
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Abnorm...	ORPHA:228123
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc...	OMIM:620138
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel...	OMIM:255320
Immunodeficiency 19	Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis...	OMIM:615617
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Elevated circula...	OMIM:160500
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Immunodeficiency 50	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp...	OMIM:300988
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Congenital muscular dystrophy, Elevated circulating creatine kinase concentration, Muscular dystr...	OMIM:613151
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thrive, L...	OMIM:618495
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans	Myopathy, Elevated circulating creatine kinase concentration, Scapulohumeral muscular dystrophy	OMIM:160570
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Angioede...	ORPHA:139402
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Type 1...	ORPHA:98905
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Overweight, Z-band str...	OMIM:619178
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Ataxia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnorma...	OMIM:617341
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N...	ORPHA:333
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Abnormal ...	OMIM:615959
Myopathy, Centronuclear, 2	Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respir...	OMIM:255200
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac...	ORPHA:298
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Lethargy, Hashimoto thyroiditis, Hypopar...	ORPHA:199299
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Lethargy, Failur...	OMIM:613561
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Limb joint contracture, Facial palsy, Lumbar hyperlordosis, Centrally...	OMIM:255310
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformit...	OMIM:610539
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:613158
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Reduced haptoglobin level	OMIM:612126
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, H...	ORPHA:258
Whipple Disease	Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Hydrocephalus, P...	ORPHA:3452
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Ataxia, Hepatos...	OMIM:603553
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Erythrocytosis, Familial, 1	Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion...	OMIM:133100
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Livedoid Vasculopathy	Pancytopenia, Enlargement of the ankles, Superficial dermal perivascular inflammatory infiltrate,...	ORPHA:542643
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Lymphopenia, Hepatomegaly, Ventriculomegaly, Short stature, Joi...	OMIM:620210
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormali...	ORPHA:2585
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Pneumonia, Increased circulating IgE level, Bronchiectasis, Decreased circulating t...	OMIM:617638
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro...	ORPHA:217260
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circ...	ORPHA:48818
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog...	OMIM:618641
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration...	OMIM:616050
Diencephalic Syndrome	Cachexia, Hydrocephalus, Long penis, Decreased body weight, Abnormality of the hypothalamus-pitui...	ORPHA:1672
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Immunodeficiency 88	Eosinophilia	OMIM:619630
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Primary Familial Polycythemia	Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea	ORPHA:90042
Short Chain Acyl-Coa Dehydrogenase Deficiency	Increased level of methylsuccinic acid in urine, Elevated circulating acylcarnitine concentration...	ORPHA:26792
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Decreased methionine synthase activ...	OMIM:236270
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Generalized amyo...	ORPHA:171
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Aspergillosis	Osteomyelitis, Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Increased circulating IgE l...	ORPHA:1163
Niemann-Pick Disease, Type A	Skeletal muscle atrophy, Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Eleva...	OMIM:257200
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho...	OMIM:609115
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Cinca Syndrome	Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive prot...	ORPHA:1451
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ...	OMIM:615422
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu...	OMIM:613490
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom...	OMIM:150550
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P...	OMIM:618848
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Splenomegaly, Jaun...	ORPHA:905
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Hydrocephalus, Thrombocytopenia	OMIM:209970
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote...	ORPHA:1302
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ...	OMIM:608099
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber ...	ORPHA:75840
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum...	ORPHA:37042
Muscular Dystrophy, Cardiac Type	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:309930
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Short neck, Asthma, Rec...	OMIM:619750
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries, Calf muscle hypertrophy, Hepatic fibrosis, Hepatic stea...	ORPHA:280356
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Pericarditis, Failure to thrive, ...	OMIM:212065
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Immunodeficiency 43	Hypoplasia of the ulna, Recurrent respiratory infections, Decreased specific antibody response to...	OMIM:241600
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva...	OMIM:610377
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Dehydrati...	ORPHA:27
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Choreoathetosis, Dystonia, Hypoglycorrhachia, Lethargy	ORPHA:71277
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Increased CSF valine conce...	OMIM:246900
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, ...	OMIM:274000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Choreoathetosis, Hyaline membranes, Intrauterine growth retardation, L...	OMIM:617065
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Elevated gamma-glutamyltransferase level, Hep...	OMIM:614576
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Recurrent respiratory infections, Skin rash, Failure to thrive...	OMIM:615934
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ...	ORPHA:446
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Lymphedema, Tapered finger, Splenomegaly, Anemia	ORPHA:2930
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Neutropenia, Anemia	OMIM:602079
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron...	OMIM:618108
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Familial Infantile Bilateral Striatal Necrosis	Ataxia, Astrocytosis, Upper limb muscle weakness, Gait ataxia, Choreoathetosis, Gait disturbance,...	ORPHA:225154
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Gene...	OMIM:615351
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Epistaxis, Ele...	OMIM:614034
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Failure to thrive, Increased urine succinate level, Decrease...	OMIM:606812
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen...	OMIM:300696
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Inab...	ORPHA:276435
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Edema, Hypocalcemia, Nephrotic range p...	ORPHA:544482
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ...	ORPHA:398063
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E...	ORPHA:79230
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S...	OMIM:613812
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Increased mitochondrial number, Ragged-red muscle fibers...	ORPHA:457050
Retinitis Pigmentosa 89	Postaxial polydactyly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic...	OMIM:618955
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R...	OMIM:617780
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel...	ORPHA:90362
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy...	ORPHA:133
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine ...	OMIM:274150
Rhabdoid Tumor	Hypercalcemia, Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight ...	ORPHA:69077
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Short neck, Respiratory insufficiency due to ...	OMIM:300718
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Eosinophilia, Recurrent pneumonia, Increased cir...	OMIM:618282
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ...	OMIM:243700
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary...	ORPHA:100093
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Kyphosis, Gait disturbance, Cubitus valgus, Congenital muscular dystro...	ORPHA:1875
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Femur fracture, Cranio...	OMIM:259700
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Mitochondrial hy...	OMIM:602541
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosis, Asthma, Ch...	OMIM:619377
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Lethargy, In...	OMIM:614866
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Failure to thrive	ORPHA:796
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased ci...	ORPHA:381
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit...	OMIM:616100
Combined Oxidative Phosphorylation Deficiency 2	Elevated hepatic transaminase, Small for gestational age, Edema, Patent ductus arteriosus, Mild f...	OMIM:610498
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase...	ORPHA:158048
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Gait ataxia, Upper limb muscle weakness, Prox...	ORPHA:309169
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Foot joint contracture, Ataxia, Cryptorchidism, Uvei...	ORPHA:90321
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Tremor, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc...	OMIM:201100
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Abnormal lung morphology, Increased T cell count, Nephro...	ORPHA:797
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Elevat...	ORPHA:90060
Mirage Syndrome	Adrenal hypoplasia, Leukopenia, Microphallus, Aspiration pneumonia, Hyponatremia, Hypospadias, Sh...	OMIM:617053
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Fasciitis, Limited elbow movement, Gastrointestinal inflammati...	ORPHA:39812
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Dehydration...	OMIM:251000
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthrit...	OMIM:619510
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat...	ORPHA:36238
1Q21.1 Microduplication Syndrome	Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Arthrogryposis multip...	ORPHA:250994
Rigid Spine Syndrome	Waddling gait, Hip contracture, Skeletal muscle atrophy, Pneumonia, Spinal rigidity, Hyperlordosi...	ORPHA:97244
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Neutrophilia, Angioedema, Leukocytosis, ...	ORPHA:3260
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy...	OMIM:167320
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Recurrent respiratory infections, Failure...	ORPHA:100
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Skeletal muscle atrophy, Bronchiectasis, Metopic sy...	ORPHA:477814
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Disproporti...	OMIM:617425
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Hydrocephalus, Anemia, Dystonia, Thrombocytopenia	OMIM:619302
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the pha...	OMIM:615630
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Overlap Myositis	Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Subluxation of the small ...	ORPHA:206572
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo...	OMIM:242700
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia...	OMIM:620085
Methylmalonic Acidemia With Homocystinuria	Lethargy, Hydrocephalus, Failure to thrive	ORPHA:26
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Uraciluria, Lethargy, Failure to thrive, Reduced dihydropyrimidine dehydrogenase level	OMIM:274270
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Decreased muscle mass, Hypertriglyceridemia, Arachnodactyly, Micro...	OMIM:619013
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Failure to thrive, Membranoproliferative glom...	OMIM:615816
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated...	OMIM:615673
Syndromic Diarrhea	Hepatomegaly, Gastritis, Small for gestational age, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Splenomegaly, Respiratory insu...	OMIM:609981
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Muscle Filaminopathy	Extremely elevated creatine kinase, Back pain, Scapular winging, Fatty replacement of skeletal mu...	ORPHA:171445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Respiratory ins...	OMIM:613153
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal musc...	ORPHA:169186
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Small...	OMIM:277380
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Interstitial pneum...	OMIM:127550
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Genu recurvatum, Elevated circulating creatine kinas...	ORPHA:206549
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Lethargy...	ORPHA:398079
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmona...	OMIM:613989
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Tempi Syndrome	Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ...	ORPHA:284227
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia, Thrombocytopenia	OMIM:166990
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Broad-based gait, Ataxia, Centrally nucleated skeletal...	OMIM:607459
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Weight loss, Elevated carcinoembryonic antigen level, Adre...	ORPHA:100083
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co...	OMIM:617099
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ...	OMIM:251110
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno...	ORPHA:545
Christianson Syndrome	Cachexia, Joint hyperflexibility, Dystonia, Arthrogryposis multiplex congenita, Ventriculomegaly,...	ORPHA:85278
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, CSF pleocytosis, Increased CSF interferon a...	OMIM:615010
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Microcephaly 19, Primary, Autosomal Recessive	Extra-axial cerebrospinal fluid accumulation, Failure to thrive in infancy, Ventriculomegaly, Dec...	OMIM:617800
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi...	ORPHA:2314
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,...	OMIM:618823
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronch...	OMIM:616005
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr...	ORPHA:1304
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Elevated circulating creatine kinase concentration, Camptodac...	OMIM:614399
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir...	ORPHA:90045
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Accessory spl...	OMIM:620005
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Elevated circulating creatine kinase concentration, Fatty replacement of skele...	OMIM:620249
Mitochondrial Myopathy, Infantile, Transient	Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia...	OMIM:500009
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Short foot, Periodontitis, Recurrent otitis media, Reduction of neutroph...	OMIM:266265
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Thrombocytopenia, Abnormality of the liver, Intrauterine growth retardation, Ventri...	ORPHA:1980
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Abnormal toe morphology, Obesity, Mu...	ORPHA:459033
Moynahan Syndrome	Short stature, Hypogonadism, Cachexia	ORPHA:2574
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb...	OMIM:604416
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Ataxia, Elevated circ...	OMIM:208900
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Avasc...	OMIM:222470
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Igg4-Related Aortitis	Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449400
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr...	ORPHA:1572
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Aminoaciduria, Galac...	OMIM:230350
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Renal Hypoplasia, Bilateral	Edema, Renal cyst, Vesicoureteral reflux, Lethargy, Decreased glomerular filtration rate, Hyponat...	ORPHA:97362
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98855
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Facial edema, Leu...	ORPHA:293173
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen...	OMIM:277400
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric aciduria,...	OMIM:557000
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79332
Mogs-Cdg	Hepatomegaly, Generalized edema, External genital hypoplasia, Polyhydramnios, Edema, Cardiomegaly...	ORPHA:79330
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Renpenning Syndrome	Severe short stature, Hypospadias, Diabetes mellitus, Cachexia, Joint stiffness, Abnormal thumb m...	ORPHA:3242
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Small for gestational age, Tremor, Increased CSF lactate, Choreoathetos...	OMIM:312170
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth...	OMIM:224120
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Abnormal...	ORPHA:2643
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Flexion contr...	ORPHA:2590
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi...	ORPHA:98863
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Rec...	ORPHA:101330
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:255125
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Metaphyseal dysplasia, Rhizomelia, Abnormal thumb...	ORPHA:1842
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Squamous Cell Carcinoma Of The Esophagus	Cough, Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbu...	OMIM:617303
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Tremor, Depression, Dystonia	OMIM:618093
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum...	ORPHA:83471
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Lymphatic Filariasis	Predominantly lower limb lymphedema, Proteinuria, Glomerulonephritis, Lymphedema, Orchitis, Lymph...	ORPHA:2035
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
H Syndrome	Microcytic anemia, Hernia, Micropenis, Short stature, Recurrent pharyngitis, Bronchiectasis, Hepa...	ORPHA:168569
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Steppage gait, M...	ORPHA:399086
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Patent ductus arteriosus, Lateral ...	OMIM:617397
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hepat...	OMIM:602579
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arachnodactyly, Short stature, Cachexia, Joint stiffness	ORPHA:1144
Cyclic Neutropenia	Cyclic neutropenia, Respiratory tract infection, Perianal abscess, Cervical lymphadenopathy, Recu...	ORPHA:2686
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Amyotrophic Lateral Sclerosis 21	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, H...	OMIM:606070
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Hypercalcemia, Craniosynostosis, Obesity, Increased blo...	ORPHA:251004
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn...	ORPHA:399058
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate...	OMIM:615368
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Increased CSF lactate, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal ...	ORPHA:549
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H...	ORPHA:172
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Osteomyelitis ...	OMIM:256810
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Sandal gap, Polyhydramnios, Splenomegaly, Abnormality of the ur...	ORPHA:1046
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Waddling gait, Elevated circulating creatine kinase concentration,...	OMIM:612937
Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d...	ORPHA:98853
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Acute colitis, Dyspnea, Leukocytosis,...	ORPHA:67
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hyperlordosis, In...	OMIM:600462
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste...	ORPHA:53
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Wide ant...	OMIM:619064
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Recurrent respiratory infections, Dystonia, Hepatomegaly	ORPHA:139406
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
Gracile Bone Dysplasia	Failure to thrive, Short stature, Asplenia, Hydrocephalus, Flared metaphysis, Hypoplastic spleen,...	OMIM:602361
Shwachman-Diamond Syndrome 1	Respiratory distress, Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaph...	OMIM:260400
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam...	ORPHA:488650
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Failure to thrive, Portal hypertension, Congenital hepatic fibr...	ORPHA:974
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis	ORPHA:42642
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Dystonia	OMIM:618224
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Short stature, Abnormal limb bone morphology, Growth delay, Epiphysea...	ORPHA:251009
Edinburgh Malformation Syndrome	Hydrocephalus, Jaundice, Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, Macroglossia, Increased circulating IgM ...	OMIM:242860
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly	OMIM:615938
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Leigh Syndrome	Dystonia, Failure to thrive, Increased CSF lactate, Hepatocellular necrosis	OMIM:256000
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Recurrent pharyngitis, ...	ORPHA:108
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Short stature, Polyhydramnios, Splenomegaly, Abnorm...	ORPHA:2204
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Thoracolumbar scoliosis, Sagittal cranio...	OMIM:610199
Glut1 Deficiency Syndrome 1	Paroxysmal dystonia, Choreoathetosis, Hypoglycorrhachia, Lethargy, Paroxysmal lethargy	OMIM:606777
Erythrocytosis, Familial, 2	Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp...	OMIM:263400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ...	OMIM:619752
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Impair...	OMIM:619574
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticuloc...	OMIM:275350
Netherton Syndrome	Hypernatremic dehydration, Recurrent respiratory infections, Failure to thrive, Angioedema, Incre...	OMIM:256500
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Creatine Phosphokinase, Elevated Serum	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Myopathy, I...	OMIM:123320
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ...	ORPHA:272
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Limitation of joint mobility, Apathy	ORPHA:99966
Systemic Capillary Leak Syndrome	Renal insufficiency, Leukocytosis, Oliguria, Pedal edema, Weight loss, Pleural effusion, Pancreat...	ORPHA:188
Idiopathic Congenital Hypothyroidism	Facial edema, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stim...	ORPHA:95717
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly,...	ORPHA:417
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Weight loss, Ly...	ORPHA:514
Sézary Syndrome	Hepatomegaly, Skeletal muscle atrophy, Abnormal pleura morphology, Abnormal immunoglobulin level,...	ORPHA:3162
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:201475
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Dyspnea, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Inability to walk, Astrocytosis, Difficulty walking, Slender build	OMIM:611087
Hypothyroidism, Congenital, Nongoitrous, 7	Short stature, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Growth de...	OMIM:618573
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Polyhydramnios, Edema, Hypocalcemia, Short tibia, Micropenis, Decreased circulatin...	OMIM:607143
Angiostrongyliasis	Ventriculomegaly, Stiff neck, Increased circulating IgA level, CSF pleocytosis, Hypereosinophilia...	ORPHA:74
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Wells Syndrome	Eosinophilia, Edema, Cellulitis	ORPHA:901
Adams-Oliver Syndrome 6	Syndactyly, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepatic fibrosis, Brachydactyly	OMIM:616589
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Reduced radioactive iodine uptake, Thyroid defect in oxidati...	ORPHA:95716
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Edema, Leukocytosis, ...	ORPHA:20
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Bone marrow hypocellularity, Lethargy, Th...	OMIM:243500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:615181
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase...	ORPHA:398069
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Hypogonadism, Intraut...	OMIM:608540
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin...	ORPHA:30391
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E...	ORPHA:2394
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Syndactyly, Short stature, Anisocytosis, Anemia of inadequate prod...	OMIM:615631
Central Core Disease	Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocation, Elevated ...	ORPHA:597
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapular winging, Facial palsy, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Scapulo...	OMIM:158901
Oculopharyngeal Muscular Dystrophy	Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ...	ORPHA:270
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, Lymphedema, Cardiomegaly, Microvesicular hepatic s...	OMIM:300855
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Typhoid	Hepatomegaly, Tremor, Splenomegaly, Abnormal pulmonary interstitial morphology, Lethargy	ORPHA:99745
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp...	OMIM:607944
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis...	ORPHA:432
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l...	ORPHA:449427
Abcd Syndrome	Polycythemia, Large for gestational age	OMIM:600501
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly, Myopathy	ORPHA:33574
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Bronchiectasis, Hyperammonemia, Respiratory insufficiency, Aspi...	OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Increased CSF lactate, Growth delay, Dystonia, Lethargy, Failure to thrive	OMIM:618226
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Fasciitis, Sinusitis, Elevated circulating creatine kinase concen...	ORPHA:36234
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Intermittent episodes ...	ORPHA:324604
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Failure to thrive in infancy, Cachexia, Shor...	ORPHA:813
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Ataxia, Astrocytosis, Gliosis, Recurrent aspi...	ORPHA:204
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Polyhydramnios, Cachexia, Limitation of joint mobility, Ost...	ORPHA:2774
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos...	OMIM:617237
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Psoriasiform dermatitis, Deep dermal perivascular inflammatory ...	ORPHA:49041
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Atelectasis, Leukocytosis, Mediastinal lymphadenopathy, Abnormal pulmonary intersti...	OMIM:620233
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ragged-re...	ORPHA:254864
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Drumstick terminal phalanges, Hepatosplenomegaly, Dec...	ORPHA:541423
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE...	OMIM:606843
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Mcdonough Syndrome	Cryptorchidism, Short stature, Cachexia	ORPHA:2471
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow...	OMIM:222748
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy	Muscular dystrophy, Gait ataxia	OMIM:253590
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Maturity-onset diabetes of the yo...	OMIM:616222
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Flexi...	ORPHA:1979
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Finger syndactyly, Congenital hip dislocation, H...	ORPHA:217346
Idiopathic Bronchiectasis	Cachexia, Respiratory tract infection, Emphysema, Clubbing, Bronchiectasis, Acute infectious pneu...	ORPHA:60033
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Weight los...	ORPHA:79242
Peeling Skin Syndrome 1	Increased circulating IgE level, Short stature, Eosinophilia	OMIM:270300
Congenital Myopathy 14	Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El...	OMIM:618414
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hypocalcemia, Hepatomegaly, Increased bone mineral density, Short s...	OMIM:259720
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Toe synda...	ORPHA:85293
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Premature ovarian insuf...	OMIM:610965
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly, Ventriculomegaly	OMIM:615937
Oculopharyngodistal Myopathy 2	Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas...	OMIM:618940
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrocephalus, Hydrops fetalis, ...	ORPHA:163596
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammagl...	OMIM:619705
Congenital Muscular Dystrophy Due To Lmna Mutation	Joint hyperflexibility, Cachexia, Flexion contracture, Limitation of joint mobility	ORPHA:157973
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:615249
Microsporidiosis	Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphad...	ORPHA:2552
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F...	ORPHA:79319
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Postaxial...	OMIM:216360
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic acidur...	ORPHA:1933
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Central Diabetes Insipidus	Hyponatremia, Dehydration, Depression, Weight loss, Lethargy, Failure to thrive, Diabetes insipid...	ORPHA:178029
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Delayed proximal femoral epiphyseal ossification, Lethargy, Depression, Umbilical h...	ORPHA:90674
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia	OMIM:610247
Fusariosis	Myositis, Fasciitis, Sinusitis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus, Flexion contracture, Small hand	OMIM:300884
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Increased CSF lactate, Abnormal circulating cre...	OMIM:615838
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-o...	ORPHA:324575
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Back pain, Torticollis, Abnormal thoracic spine morphology, Elevated ca...	ORPHA:370348
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Autoimmune h...	OMIM:614162
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm...	ORPHA:447
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Elevated circulatin...	OMIM:607091
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Wiskott-Aldrich Syndrome	Iron deficiency anemia, Inflammation of the large intestine, Absent microvilli on the surface of ...	OMIM:301000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Wide anterior fontanel, Jaundice, Glutaric aciduria, Generalized aminoaciduria, Ren...	OMIM:231680
Congenital Myasthenic Syndromes With Glycosylation Defect	Waddling gait, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase conce...	ORPHA:353327
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy, Lower-limb joint contracture, Increased CSF lactate	OMIM:613710
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Eleva...	ORPHA:79284
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Hyperkalemia, EMG: myop...	ORPHA:57
O'Sullivan-Mcleod Syndrome	Tremor, Increased circulating antibody level, Eosinophilia	ORPHA:99965
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E...	ORPHA:160
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Zebra Body Myopathy	Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kina...	ORPHA:97240
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Shigellosis	Hyponatremia, Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leuko...	ORPHA:810
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Weight loss	ORPHA:1164
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Depression, Decreased beta-glucocerebros...	OMIM:231000
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Riboflavin Transporter Deficiency	Tremor, Hypogonadism, Diabetes insipidus, Cachexia	ORPHA:97229
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Foo...	OMIM:214500
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive	ORPHA:79283
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weight...	ORPHA:391
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive	ORPHA:622
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Alexander Disease Type I	Hydrocephalus, Failure to thrive, Cachexia	ORPHA:363717
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral dens...	ORPHA:2770
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid ...	ORPHA:276575
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles, Elevated circulating creatine kinase concentration	OMIM:609500
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Short stature, Megaloblastic anemia, Lethargy, Thrombocytopenia	ORPHA:49827
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-...	OMIM:612852
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Edema, Leukocytosis, Peritonitis, Neutropenia, Lethargy,...	ORPHA:391673
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Centrally nu...	ORPHA:324581
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture...	ORPHA:1145
Dopamine Beta-Hydroxylase Deficiency	Dyspnea, Elevated circulating creatinine concentration, Rhinitis, Increased blood urea nitrogen, ...	ORPHA:230
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Tapered finger, Intrauterine...	OMIM:616801
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa va...	OMIM:602271
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo...	OMIM:613839
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g...	OMIM:261750
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatomegaly, Inc...	ORPHA:77259
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Facial edema, P...	ORPHA:449432
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Thrombocytopenia, Malar rash, Leukopenia, Optic neuritis, Lymphopeni...	OMIM:301080
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholangitis, Short neck, Short metatarsal, Hepatic fibrosis, Clinodactyly of the 5th finger, Shor...	OMIM:266920
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Hyperlipidemia, Abnormality of the l...	ORPHA:1414
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr...	ORPHA:565612
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Short stature, Tremor, Splenomegaly, Nephropathy, Flexion contract...	ORPHA:87876
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Cachexia, Abnorm...	ORPHA:2072
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal...	ORPHA:59135
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Leukocytosis, Lymphadenop...	ORPHA:520
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent respiratory infections, Inguinal hernia, Postaxial hand polydactyly, Recurrent upper re...	OMIM:300209
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gla...	ORPHA:2969
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Lethargy, Failure to thrive, Ventriculomegaly	OMIM:618228
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Decreased 3-hyd...	OMIM:231530
Boutonneuse Fever	Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymp...	ORPHA:83313
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophilia, Abnormal ple...	ORPHA:183
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hypercalcemia, Infantile, 1	Hypercalcemia, Decreased circulating parathyroid hormone level, Polyuria, Nephrolithiasis, Dehydr...	OMIM:143880
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Wide capital femoral epiphyses, Small for gestational age, Lumbar hyperlordosi...	ORPHA:1830
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Decreased circulating free fatty acid level, Hyperinsuli...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mel...	ORPHA:276580
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Xerostomia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia, A...	OMIM:175500
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Joint stiffness, Metatarsus valgus, Radial deviation of t...	ORPHA:1388
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Hyperalaninem...	OMIM:619046
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Pedal...	ORPHA:330001
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Reduced vital capacity, Elevated circulating creatine kinase concentration, Qua...	OMIM:603689
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Loeffler Endocarditis	Left ventricular hypertrophy, Eosinophilia, Weight loss	ORPHA:75566
Beckwith-Wiedemann Syndrome	Ureteral duplication, Polyhydramnios, Cardiomegaly, Large for gestational age, Congenital diaphra...	ORPHA:116
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent...	OMIM:619473
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ra...	OMIM:617069
Myasthenic Syndrome, Congenital, 12	Waddling gait, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Mildly elevated creat...	OMIM:610542
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Ele...	ORPHA:370959
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Flexion contracture, ...	OMIM:222765
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, Os...	OMIM:212750
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
2,4-Dienoyl-Coa Reductase Deficiency	Failure to thrive, Hydrocephalus, Increased CSF lactate, Choreoathetosis, Colpocephaly, Hyperlysi...	OMIM:616034
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Atopic dermat...	OMIM:618624
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermat...	ORPHA:293978
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune t...	ORPHA:760
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis	ORPHA:1538
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Pyruvate Dehydrogenase Deficiency	Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Growth delay, Multiple lipomas, ...	ORPHA:765
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Knee osteoarthritis, Flexion contracture, Uveitis, Enthesitis, Ab...	ORPHA:85408
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Loss of ability to walk in early childhood, Elevated circulating creatine kinase concentration, R...	OMIM:609560
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Dyspnea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromboc...	ORPHA:54057
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Short stature, Arachnodactyly, Premature ovarian insufficiency, Increas...	ORPHA:243
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentratio...	OMIM:222700
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropenia, Lethargy,...	ORPHA:124
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Ataxia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Ragged-red muscle fib...	OMIM:618416
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Waddling gait, Elevated circulating creatine kinase concentration, Ragged-red muscle fibers, Lowe...	OMIM:616924
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated circulating creatine kinase concentration, Polyhydramnios, Leukopenia, Pulmonary artery ...	OMIM:301056
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Increased m...	OMIM:619774
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia,...	ORPHA:292
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ...	OMIM:277410
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Weight lo...	ORPHA:141152
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Overlapping fingers, Recurre...	OMIM:615966
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,...	OMIM:619477
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology	ORPHA:724
Platelet-Activating Factor Acetylhydrolase Deficiency	Increased level of platelet-activating factor	OMIM:614278
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Pleural Mesothelioma	Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Lymphadenopathy, Weight loss,...	ORPHA:50251
Tuberculosis	Abnormal lung morphology, Weight loss	ORPHA:3389
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperinsuline...	ORPHA:276608
Isolated Atp Synthase Deficiency	Hepatomegaly, Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypog...	ORPHA:254913
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Apnea, Ataxia, Portal hypertension, Splenomegaly, Po...	ORPHA:1454
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Enlarged epiphyses, Metaphyseal dysplasia, Small for gestational ...	OMIM:613330
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Preaxial polydactyly, O...	ORPHA:141333
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Hepatomegaly, Pericarditis, Skin rash, Gastritis, Splenomegaly, Media...	ORPHA:809
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Polyarticular arthritis, Colitis, Lymphopenia, Thr...	OMIM:616744
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein c...	ORPHA:91547
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	ORPHA:254516
Glycine Encephalopathy 1	Lethargy, Hyperglycinuria, Hyperglycinemia	OMIM:605899
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Laurence-Moon Syndrome	Finger syndactyly, Ataxia, Congenital hepatic fibrosis, Cryptorchidism, Obesity, Hand polydactyly...	ORPHA:2377
Dengue Fever	Hepatomegaly, Leukopenia, Lethargy, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Oculogyric crisis, Focal dystonia, Bradykinesia, Decreased...	ORPHA:101150
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,...	OMIM:224230
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly	OMIM:611808
Beta-Ketothiolase Deficiency	Hepatomegaly, Ataxia, Leukocytosis, Tachypnea, Hyperammonemia, Weight loss, Hyperuricemia, Cough,...	ORPHA:134
Gm1 Gangliosidosis	Tremor, Hydrops fetalis, Decreased beta-galactosidase activity, Aspiration pneumonia, Short statu...	ORPHA:354
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Inguinal hernia, Hypospadias, Broad hallux, Craniosynostosis, 1-3 toe synda...	OMIM:175700
Diamond-Blackfan Anemia 7	Macrocytic anemia, Small hypothenar eminence, Short thumb, Increased mean corpuscular volume, Rec...	OMIM:612562
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Flexion contr...	ORPHA:77260
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Increased variability in muscle fiber diamete...	OMIM:620265
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Adenocarcinoma Of The Esophagus	Cough, Obesity, Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Pontocerebellar Hypoplasia, Type 6	Lethargy, Failure to thrive, Elbow contracture, Increased CSF lactate	OMIM:611523
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Igg4-Related Ophthalmic Disease	Palpebral edema, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased c...	ORPHA:449563
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Short stature, P...	OMIM:256550
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Kaposi Sarcoma	Generalized lymphadenopathy, Lymphedema, Abnormality of the spleen, Abnormal lung morphology, Wei...	ORPHA:33276
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Syndactyly, Hydrocephalus, Polydactyly, Hernia, Leukemia, Ventriculomegaly	OMIM:602501
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Polyhydramnios, Flexion contracture, 2-3 toe syndactyly, Dyston...	OMIM:618186
Developmental And Epileptic Encephalopathy 92	Lethargy, Dystonia	OMIM:617829
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Leukocytosis, Flexion contracture, Hydrocephalus, Renal hypoplasia, Genu valgum, A...	OMIM:619321
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Short tibia, Pneumothorax, Glandular hypospadias, Abnormal circulating...	OMIM:620306
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Gait disturbance, Astrocytosis	OMIM:600795
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Optic Atrophy 11	Ataxia, Splenomegaly, Gait apraxia, Dysmetria, Facial diplegia, Athetosis, Bilateral talipes equi...	OMIM:617302
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Elevated hepatic transamina...	OMIM:615273
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, Panc...	ORPHA:1655
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, My...	ORPHA:713
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Diamond-Blackfan Anemia 6	Macrocytic anemia, Short thumb, Persistence of hemoglobin F, Increased mean corpuscular volume, T...	OMIM:612561
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Elevated circulating creatine ...	OMIM:617070
Juvenile Polyposis Of Infancy	Refractory anemia, Subcutaneous lipoma, Short stature, Cachexia, Patent ductus arteriosus, Midcla...	ORPHA:79076
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst, Ab...	ORPHA:79303
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Megaloblastic anemia, ...	ORPHA:79282
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Hydrocep...	ORPHA:171839
Alg8-Cdg	Hyponatremia, Elevated hepatic transaminase, Ventriculomegaly, Failure to thrive, Small for gesta...	ORPHA:79325
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Walker-Warburg Syndrome	Skeletal muscle atrophy, Cryptorchidism, Abnormal circulating creatine kinase concentration, Musc...	ORPHA:899
Hypophosphatasia	Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani...	ORPHA:436
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Tremor, Osteoarthritis, Hydrop...	ORPHA:355
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He...	ORPHA:781
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Postaxial hand polydactyly, Short stature, Cachexia	ORPHA:1389
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, Lateral disp...	OMIM:242900
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,...	OMIM:310440
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Arachnodactyly, Cachexia, Elbow flexion contracture, Small hand, ...	ORPHA:371364
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul...	OMIM:604173
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Generalized edema, Decreased mean corpuscular he...	ORPHA:244242
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Hepatomegaly, Failure to thrive in infancy, Proteinuria, Spleno...	ORPHA:834
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ch...	OMIM:615846
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Clinodactyly of the 5th finger, Prominent finger...	OMIM:615637
Scrub Typhus	Renal insufficiency, Tremor, Splenomegaly, Lymphadenopathy, Lethargy	ORPHA:83317
Behavioral Variant Of Frontotemporal Dementia	Gait disturbance, Astrocytosis	ORPHA:275864
Japanese Encephalitis	Hyponatremia, Stiff neck, Neutrophilia, Tremor, CSF pleocytosis, Elbow flexion contracture, CSF l...	ORPHA:79139
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Polyhydramnios, Coxa vara, Wrist flexion cont...	ORPHA:800
Muscular Dystrophy, Congenital, With Rapid Progression	Congenital muscular dystrophy	OMIM:254100
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Myopathy, Chronic otiti...	ORPHA:169090
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Failure to thrive...	OMIM:619418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Elevated circulating creatine kinase concentration, Spinal rigidity, Skeletal muscle hypertrophy,...	OMIM:613150
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Increased circulating IgG level, Leukopenia, Hypoalbuminem...	ORPHA:2298
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Short stature, Congenital diaphragmatic hernia, Abnormality of the spleen, Hydroceph...	ORPHA:1834
Alg12-Cdg	Proximal placement of thumb, Hypoalbuminemia, Hypocholesterolemia, Clinodactyly of the 5th finger...	ORPHA:79324
High Altitude Pulmonary Edema	Leukocytosis, Pulmonary edema	ORPHA:330012
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Kyphosis, Fle...	ORPHA:90324
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Ataxia, Tapered finger, Seborrheic...	OMIM:301072
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Cryptorchidi...	ORPHA:110
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen, Elevated uri...	OMIM:121300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Muscular dystrophy	OMIM:614830
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Congenital muscular dystrophy	OMIM:254000
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Skele...	OMIM:256040
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Micromelia, Short neck, Postaxial hand polyd...	OMIM:200995
Ogden Syndrome	Inguinal hernia, Torticollis, Broad hallux, Postnatal growth retardation, Cryptorchidism, Pulmona...	ORPHA:276432
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Hydrocephalus, R...	OMIM:612301
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive...	OMIM:242840
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Cryptorchidism, Oligozoospermia, Azoospermia,...	OMIM:300200
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy	OMIM:204730
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo...	ORPHA:99867
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Abnor...	ORPHA:90051
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Broad-based gait, Ataxia, Elevated circulating creatine kinase concentra...	OMIM:616479
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Skeletal muscle atrophy, Recurrent respiratory infections, Progressive distal muscular atrophy, S...	OMIM:159950
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co...	OMIM:609015
Oslam Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean corpuscular volume, Abnorma...	ORPHA:2760
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Thoracic scoliosis, Multiple joint contr...	ORPHA:2959
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti...	OMIM:614868
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Coxa valga, Thoracolumbar kyphosis, Splenomegaly, Hypoplastic vertebral bod...	OMIM:230600
Muscular Dystrophy, Mabry Type	Late-onset muscular dystrophy	OMIM:310000
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s...	ORPHA:79083
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Thrombo...	OMIM:251290
Digital Extensor Muscle Aplasia-Polyneuropathy	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ...	ORPHA:2926
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal muscle f...	ORPHA:732
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Tapered finger, Hypocalcemia, Intrauterine growth retardation	ORPHA:1438
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Wide anterior fontanel, Hydrocephalus, Elevated cir...	OMIM:614886
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Short stature, Failure to thrive in infancy, Cachexia, Joint st...	ORPHA:702
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffici...	ORPHA:2047
Atelis Syndrome 1	Eczema, Bronchiectasis, Lumbar kyphosis, Anemia, Leukopenia, Thrombocytopenia	OMIM:620184
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced radioactive iodine uptake, Reduced circulating prolactin concentration, Overweight, Eleva...	ORPHA:99832
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive,...	OMIM:613489
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Sclerotic vertebral ...	OMIM:611490
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, El...	OMIM:232300
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia	OMIM:619851
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Lethargy, Fa...	ORPHA:2089
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Dehydration, Iron deficiency...	ORPHA:1667
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration	OMIM:266100
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Edema, Bowing of the legs, Holoprosencephaly, Short palm, Hepatomegaly, Atelectas...	OMIM:269860
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Respiratory failure, Elevated circulating creatin...	OMIM:616538
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea,...	OMIM:612387
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp...	ORPHA:171876
Congenital Rubella Syndrome	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Type I dia...	ORPHA:290
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c...	ORPHA:85443
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Discoid lupus rash, Dyspnea, Malar rash, Lymphadenopathy, Leukopenia, Arthri...	ORPHA:93552
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Diabetes insipidus, Weight loss	ORPHA:30925
Severe Canavan Disease	Lethargy, Joint stiffness	ORPHA:314911
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Mye...	ORPHA:79456
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Jaundice, He...	ORPHA:186
Huntington Disease-Like 2	Depression, Weight loss, Bradykinesia, Apathy, Dystonia, Inertia, Action tremor	OMIM:606438
Inherited Creutzfeldt-Jakob Disease	Gait ataxia, Progressive cerebellar ataxia, Astrocytosis	ORPHA:282166
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Trisomy 18	Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Spina bifida, Congenital diaphragm...	ORPHA:3380
Intellectual Developmental Disorder, X-Linked 12	Joint laxity, Increased body mass index, Small for gestational age, Short stature, Tremor, Crypto...	OMIM:300957
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure t...	ORPHA:927
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in...	OMIM:613385
Hyperparathyroidism, Transient Neonatal	Osteopenia, Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Inguinal hernia, ...	OMIM:618188
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, ...	ORPHA:97289
Alpha-Mannosidosis	Hepatomegaly, Bowing of the long bones, Recurrent respiratory infections, Short neck, Splenomegal...	ORPHA:61
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Elevated circul...	ORPHA:542323
48,Xxyy Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogon...	ORPHA:10
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc...	OMIM:614817
Mucopolysaccharidosis, Type Vii	Flexion contracture, Hydrops fetalis, Narrow greater sciatic notch, Reduced leukocyte beta-glucur...	OMIM:253220
Krabbe Disease	Autoimmune thrombocytopenia, Hydrocephalus, Reduced galactocerebrosidase activity, Failure to thr...	OMIM:245200
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber...	OMIM:607426
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad...	OMIM:193300
Reni Syndrome	Hypertriglyceridemia, Ataxia, Cryptorchidism, Hypoalbuminemia, Lymphopenia	OMIM:617575
Joubert Syndrome 9	Scoliosis, Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Respiratory dist...	OMIM:615512
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Hydrocephalus, P...	OMIM:300514
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Birth ...	OMIM:300148
Proteus Syndrome	Lymphedema, Neoplasm of the thymus, Abnormal lung lobation, Abnormal finger morphology, Renal cys...	ORPHA:744
Hypothyroidism Due To Tsh Receptor Mutations	Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, N...	ORPHA:90673
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Tu...	ORPHA:340
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin co...	ORPHA:90041
Spinocerebellar Ataxia, Autosomal Recessive 20	Hepatomegaly, Ataxia, Kyphoscoliosis, Splenomegaly, Inability to walk, Macroglossia, Talipes equi...	OMIM:616354
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Edema, Arthrogryposis multiplex congenita, Ventriculomegaly, Intrauterine gro...	OMIM:616570
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Lethargy, Hyperlysinemia	OMIM:238750
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Ataxia, ...	OMIM:616263
Isolated Splenogonadal Fusion	Abnormal penis morphology, Inguinal hernia, Unilateral cryptorchidism, Elevated circulating alpha...	ORPHA:457083
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp...	OMIM:618120
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Azoospermia, Abnormality o...	ORPHA:2183
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Triploidy	Omphalocele, Hepatomegaly, Hypoplasia of penis, Finger syndactyly, Hypospadias, Polyhydramnios, C...	ORPHA:3376
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short stature, Microcytic anemia, Cryptorchidism, Short toe, Flexion contracture, Fa...	ORPHA:98791
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Increased CSF lactate, Limb dystonia, Lethargy, Ventricul...	OMIM:604377
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aciduri...	OMIM:617156
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe failure to thrive,...	ORPHA:423479
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Le...	ORPHA:156
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia	OMIM:237310
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic ...	ORPHA:2494
Hyperphenylalaninemia, Bh4-Deficient, B	Hyperphenylalaninemia, Tremor, Choreoathetosis, Increased CSF phenylalanine concentration, Dyston...	OMIM:233910
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Urinary incontinence, Cachexia, Head titubation, Upper-limb joint contracture, Op...	ORPHA:300605
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pneumonia, Elevated circu...	ORPHA:26793
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Methemoglobinemia, Exertional dyspnea	ORPHA:621
Satoyoshi Syndrome	Short stature, Tapered finger, Abnormality of the humerus, Nephrogenic diabetes insipidus, Abnorm...	ORPHA:3130
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Cerebral edema, Hepatic necrosis, Hyperammonemia, Hepato...	ORPHA:90062
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Tay-Sachs Disease	Skeletal muscle atrophy, Hip flexor weakness, Increased serum beta-hexosaminidase, Quadriceps mus...	ORPHA:845
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjuga...	OMIM:211600
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta...	OMIM:610198
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Tach...	ORPHA:71275
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Tremor, Osteoart...	OMIM:277900
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co...	ORPHA:70578
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Recurrent respiratory infections, Polycystic liver disease, Pancreatic fi...	OMIM:208500
Citrullinemia Type I	Torticollis, Hyperammonemia, Hepatic failure, Elevated plasma citrulline, Lethargy, Failure to th...	ORPHA:247525
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Severe short stature, Short stature, Decreased iduronate sulfatase...	OMIM:309900
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, Nocturnal hypoventilation, Increased variabili...	OMIM:616470
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Rhabdomyolysis, Myopathy, Erythroid hyperplasia	OMIM:300653
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy, Increased CSF lactate	OMIM:618225
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis	OMIM:619462
Primary Ciliary Dyskinesia	Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening...	ORPHA:244
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Hand ...	ORPHA:254886
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic choles...	OMIM:235555
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Splenomegaly, Lacticaciduria, Increase...	OMIM:252010
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Avascular nec...	ORPHA:247691
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Facial palsy, Respir...	OMIM:258450
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Intention tremor, Hepatomegaly, Cryptorchidism, Ren...	ORPHA:191
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle fiber size, Poly...	ORPHA:2348
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness,...	ORPHA:2635
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lethargy, Lympho...	ORPHA:319218
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Ventriculomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Thromboc...	OMIM:608013
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Eczema, Thrombocytopenia, Recurrent upper respiratory tract infe...	ORPHA:508542
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Hepatic steatosis, Dec...	OMIM:619573
Macdermot-Winter Syndrome	Camptodactyly of finger, Hypoplastic male external genitalia, Intrauterine growth retardation, Hy...	OMIM:247990
Hurler Syndrome	Metaphyseal widening, Flexion contracture, Hernia, Hepatomegaly, Short stature, Hypoplasia of the...	OMIM:607014
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Polyhydramnios, Cardiomegaly, Multiple prenatal fractures, Flexion contracture, Hydro...	OMIM:616897
Insulinoma	Tremor, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Fasting hyperinsu...	ORPHA:97279
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating creatine kinase concentration, Elevated circul...	OMIM:611182
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome	Cryptorchidism, Inguinal hernia, Ventriculomegaly	ORPHA:1568
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Metaphyseal widening, F...	OMIM:263210
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Osteomyelitis, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Lymph...	OMIM:306400
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis...	ORPHA:892
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty replaceme...	ORPHA:52430
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Steppage gait,...	OMIM:608340
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Facial palsy, Elevated circulating creatine kinase concentration,...	OMIM:615084
Thanatophoric Dysplasia	Polyhydramnios, Joint stiffness, Abnormal sacroiliac joint morphology, Increased nuchal transluce...	ORPHA:2655
Isolated Sedoheptulokinase Deficiency	Ventriculomegaly, Inguinal hernia, Short stature, Renal insufficiency, Portal hypertension, Flexi...	ORPHA:440713
Donohue Syndrome	Skeletal muscle atrophy, Cholestasis, Ovarian cyst, Large hands, Hepatic fibrosis, Pancreatic isl...	OMIM:246200
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic...	OMIM:227646
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Obesity, Cholestasis, Tubulointerstitial nephritis, Polydactyly, ...	OMIM:616629
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Cryptorchidi...	OMIM:235255
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Cornelia De Lange Syndrome 5	Toe syndactyly, Short stature, Proximal placement of thumb, Postnatal growth retardation, Cryptor...	OMIM:300882
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ...	ORPHA:2235
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Autoimmune hemolytic anemia, Myositis, Hepatomegaly, Splenomegaly, Flexi...	OMIM:619183
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Small for gestational age, Asthma, Increased ...	ORPHA:330015
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Dehydration, Leukopenia, Hypoalbuminemia, Let...	ORPHA:99826
Alpha-Mannosidosis, Adult Form	Pancytopenia, Ataxia, Pneumonia, Hepatosplenomegaly, Macroglossia	ORPHA:309288
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Hypospadias, Short stature, Sandal gap, Tremor, Cryptorchidism, Small hand, Short f...	OMIM:300354
Incontinentia Pigmenti	Finger syndactyly, Short stature, Camptodactyly of finger, Eosinophilia, Supernumerary nipple, Ab...	ORPHA:464
Juvenile Huntington Disease	Depression, Bradykinesia, Weight loss, Dystonia, Ventriculomegaly	ORPHA:248111
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Hypoventilation, Elevated hepatic transaminase, Failure to t...	OMIM:203700
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Tremor, Splenomegaly, Jaundice, Th...	ORPHA:525731
Fanconi Anemia, Complementation Group F	Sacral dimple, Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Sh...	OMIM:603467
Listeriosis	Respiratory distress, Back pain, Liver abscess, Abnormal cellular immune system morphology, Granu...	ORPHA:533
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Facial palsy	OMIM:182410
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Hepatomegaly, Dystonia, Short stature, Iron deficiency anemia, Decreased body weigh...	OMIM:607906
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Aminoaciduria, Dystonia, Lethargy, Failure to thrive	OMIM:250620
Rat-Bite Fever	Abdominal aseptic abscess, Back pain, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash...	ORPHA:31205
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Limb ataxia, Decr...	OMIM:248500
Desmosterolosis	Increased bone mineral density, Severe short stature, Metatarsus adductus, Splenomegaly, Hydrocep...	ORPHA:35107
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bila...	OMIM:300219
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, L...	OMIM:605711
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Bowing of the long bones, Radial bowing, Aqueductal s...	ORPHA:3035
Masa Syndrome	Hydrocephalus, Short stature, Ventriculomegaly, Adducted thumb	OMIM:303350
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi...	OMIM:601847
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Hepatomegaly, Episcleritis, Skin rash, Ataxia, Splenomegaly, Dyspnea, Uveitis,...	ORPHA:36412
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:613154
Diamond-Blackfan Anemia 1	Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropenia,...	OMIM:105650
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I...	ORPHA:555905
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Resting tremor, Bipolar affective disorder, Hyperthyroidism, Eleva...	ORPHA:254892
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Tachypnea, Primary hyperparathyro...	OMIM:239200
Emanuel Syndrome	Recurrent respiratory infections, Ventriculomegaly, Inguinal hernia, Torticollis, Congenital hip ...	OMIM:609029
Congenital Muscular Dystrophy With Intellectual Disability	Multiple joint contractures, Elevated circulating creatine kinase concentration, Cryptorchidism, ...	ORPHA:370968
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Ab...	ORPHA:84
Trisomy 5P	Hypoplasia of penis, Short stature, Obesity, Abnormal metacarpal morphology, Ventriculomegaly	ORPHA:1742
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Recurrent respiratory infections, Lumbar hyperlordosis, Ovo...	OMIM:230000
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ...	ORPHA:699
Tetrasomy 12P	Joint hyperflexibility, Short stature, Cachexia	ORPHA:884
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital cap...	ORPHA:329478
Goodpasture Syndrome	Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Cough, Increased DLCO, Tachypnea...	OMIM:233450
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Osteosarcoma	Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration...	ORPHA:668
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Insulin-resistant diabetes mellitus, Weight loss, Increased circulating ant...	ORPHA:411593
Biotinidase Deficiency	Hepatomegaly, Splenomegaly, Hyperammonemia, Organic aciduria, Lethargy, Decreased circulating bio...	OMIM:253260
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Increased CSF la...	OMIM:614922
49,Xyyyy Syndrome	Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm...	ORPHA:99330
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
X-Linked Creatine Transporter Deficiency	Short stature, Cachexia, Abnormal circulating creatine concentration, Joint hyperflexibility, Ath...	ORPHA:52503
Immunodeficiency 22	Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Recurrent upper respiratory tract inf...	OMIM:615758
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoriasiform dermatitis, Ataxia, H...	ORPHA:221139
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Tremor, Hydrocephalus, Elbow flexion contracture	OMIM:619470
Senior-Loken Syndrome	Congenital hepatic fibrosis, Ataxia	ORPHA:3156
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Microlissencephaly	Pneumonia	ORPHA:1083
Thanatophoric Dysplasia Type 2	Encephalocele, Short stature, Polyhydramnios, Increased nuchal translucency, Limitation of joint ...	ORPHA:93274
Bardet-Biedl Syndrome 1	Decreased testicular size, Syndactyly, Ataxia, Postaxial polydactyly, Postaxial hand polydactyly,...	OMIM:209900
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Diabetes insipidus,...	ORPHA:35687
Pierpont Syndrome	Joint laxity, Small for gestational age, Cryptorchidism, Abnormal subcutaneous fat tissue distrib...	ORPHA:487825
Kaposiform Lymphangiomatosis	Abnormal lung morphology, Abnormal femur morphology, Pericardial effusion, Hepatosplenomegaly, Ab...	ORPHA:464329
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Clubbing of toes, Weight loss	ORPHA:2198
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Bowing of the long bones, Recurrent fractures, Cr...	ORPHA:667
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Clubbing, Bronchiectasis, Cheilitis, Absent isohemagglutini...	OMIM:615468
Developmental And Epileptic Encephalopathy 70	Cryptorchidism, Ventriculomegaly, Flexion contracture, Polyhydramnios	OMIM:618298
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Decreased mitochondrial number, Elevated circulating creatine kin...	ORPHA:352447
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio...	OMIM:300559
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Slender build, Limb tremor, Ventriculomegaly	OMIM:300699
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ...	OMIM:609757
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
Immunodeficiency 10	Myopathy, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal...	OMIM:270400
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Spinal rigidity, Fle...	OMIM:253800
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Microvesicular hepatic steatosis, Decreased CSF biopterin level, Redu...	ORPHA:404454
Snakebite Envenomation	Hyponatremia, Epistaxis, Rhabdomyolysis, Respiratory failure, Respiratory paralysis, Muscle fiber...	ORPHA:449285
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice...	OMIM:613471
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoalbuminemia, ...	OMIM:619534
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Opisthotonus, Ac...	OMIM:210200
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha...	OMIM:620285
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Generalized dystonia, Cerebral edema, Dystonia, Left ventricular hypertrophy, Letha...	OMIM:618321
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph...	OMIM:250250
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,...	ORPHA:575
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio...	ORPHA:57777
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Central Neurocytoma	Lethargy, Abnormal lateral ventricle morphology, Hydrocephalus, Depression	ORPHA:73256
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Short stature, Craniosynostosis, Hydrocephalus, Patent ductus arteriosus, Clinodactyly of the 5th...	ORPHA:1516
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Acute Lung Injury	Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu...	ORPHA:178320
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat...	OMIM:619693
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexi...	OMIM:618440
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Vaginal neoplasm, Pelvic mass, Reduced C-peptide level, Weight lo...	ORPHA:2126
Multiple Sulfatase Deficiency	Hepatomegaly, Short stature, Broad hallux, Periorbital edema, Splenomegaly, Hydrocephalus, Mucopo...	OMIM:272200
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Tr...	OMIM:616541
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Metaphyseal widening, ...	ORPHA:73230
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Leukoencephalopathy With Vanishing White Matter 1	Premature ovarian insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Primar...	OMIM:603896
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Postaxial polydactyly	OMIM:213010
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Resting tremor, Renal insufficiency, Stiff neck, Elevated circulat...	ORPHA:319213
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Ventriculomegaly, Multicystic kidney dysplasia, Hypospadias, Small for gestational...	OMIM:257300
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Centrally nucl...	OMIM:616503
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Hernia, Ascites	ORPHA:26790
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Cranios...	ORPHA:380
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Elevated circ...	OMIM:101800
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog...	ORPHA:85212
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Argininosuccinic Aciduria	Hepatomegaly, Ataxia, Elevated circulating aspartate aminotransferase concentration, Hyperglutami...	OMIM:207900
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Hematuria, Fibrocystic lung disease	OMIM:158310
Chronic Hiccup	Depression, Dehydration, Weight loss	ORPHA:396
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Sandal ga...	OMIM:251260
Atrial Standstill	Skeletal muscle atrophy, Dyspnea, Flexion contracture, Left ventricular noncompaction, Muscular d...	ORPHA:1344
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni...	ORPHA:289390
Incontinentia Pigmenti	Short stature, Eosinophilia, Supernumerary nipple, Scarring, Leukocytosis, Breast aplasia, Hypopl...	OMIM:308300
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephr...	OMIM:105200
Cushing Disease	Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Pedal edema, Le...	ORPHA:96253
Smith-Kingsmore Syndrome	Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidism, Thromboc...	OMIM:616638
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Rhinitis, Abnormal...	ORPHA:93476
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Joint hypermobility, Supernumerary nipple, Camptodactyly of finger, Ro...	OMIM:619951
Erythrokeratodermia Variabilis	Diabetes mellitus, Short stature, Tapered finger, Weight loss, Abnormal testis morphology, Brachy...	ORPHA:317
Riddle Syndrome	Generalized lymphadenopathy, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:420741
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Asplenia, Abnormal lung lobation, Hydrops fetalis, Finger cl...	ORPHA:99776
Arima Syndrome	Hepatomegaly, Ataxia, Dyspnea, Postaxial hand polydactyly, Tachypnea, Postaxial foot polydactyly,...	OMIM:243910
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Hypocalcemia, L...	ORPHA:746
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen...	OMIM:249000
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Rocker bottom foot, Coxa valga, Cryptorchidism, Rec...	OMIM:214150
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Neuropathic arthropathy, Recurrent infections due to aspiration, Elevated circulating creatinine ...	OMIM:223900
Microcephaly 27, Primary, Autosomal Dominant	Joint hypermobility, Tapered finger, Metatarsus adductus, Cryptorchidism, Extra-axial cerebrospin...	OMIM:619180
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Dystonia, Hypospadias, Small for gestational age, Hyperammonemia, ...	OMIM:615471
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decrea...	OMIM:616084
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Hydrops fetalis, Hydrocele testis, Radioulnar synostosis, Short middle phalanx ...	OMIM:616738
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Huntington Disease-Like 2	Dystonia, Weight loss	ORPHA:98934
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni...	OMIM:613807
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Fatty replacement of ske...	OMIM:619790
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Short stature, Hydrocephalus, Postaxial hand polydactyly...	OMIM:241800
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Hypomagnesemia, Weakn...	OMIM:223360
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat...	ORPHA:1333
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Lymphadenopathy, Clinod...	ORPHA:99812
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Hydrocephalus, Unilambdoid synostosis, Clinodactyly, Hypoplastic female external ...	OMIM:618577
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Small for gestational age, Ataxia, Inabi...	ORPHA:79243
Spastic Paraplegia 47, Autosomal Recessive	Short stature, Overweight, Flexion contracture, Dystonia, Acetabular dysplasia, Ventriculomegaly	OMIM:614066
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Lymphopenia, 2-3 toe syndactyly, Scoliosis	ORPHA:391307
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Difficulty walking	OMIM:619024
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver	ORPHA:205
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ...	ORPHA:94093
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome...	ORPHA:75565
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Edema,...	ORPHA:226316
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Hepatomegaly, Short stature, S...	OMIM:253200
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Cryptor...	OMIM:307030
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis	ORPHA:33577
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Increased bone mineral density, Stage 3 chronic kidney disease, Cortical scl...	OMIM:620366
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Obesity,...	OMIM:615300
Tatton-Brown-Rahman Syndrome	Bipolar affective disorder, Joint hypermobility, Proportionate short stature, Cryptorchidism, Sho...	ORPHA:404443
Hurler Syndrome	Recurrent respiratory infections, Hepatomegaly, Short stature, Camptodactyly of finger, Abnormali...	ORPHA:93473
Alg9-Cdg	Abnormal lung lobation, Hydrops fetalis, Narrow greater sciatic notch, Abnormal bone ossification...	ORPHA:79328
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Bowing of the long bones, Micromelia, Postaxial polydactyly, Flat acet...	OMIM:614091
Opsismodysplasia	Recurrent respiratory infections, Abnormally ossified vertebrae, Hepatomegaly, Severe short statu...	ORPHA:2746
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Lethargy, Hyperglycinemia, Increased CSF glycine concentration	OMIM:614299
Emanuel Syndrome	Recurrent respiratory infections, Ventriculomegaly, Multiple joint contractures, Inguinal hernia,...	ORPHA:96170
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Re...	OMIM:617784
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608779
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem...	ORPHA:90186
Thyroid Dyshormonogenesis 1	Growth delay, Umbilical hernia, Hypothyroidism, Lethargy, Goiter	OMIM:274400
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Emphysema...	OMIM:613658
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea, Increased total bilirubin	ORPHA:90037
Gómez-López-Hernández Syndrome	Hydrocephalus, Short stature	ORPHA:1532
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Cryptorchidism, Kyphosis, Increased mean corpuscular volume, Scolios...	ORPHA:261250
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ...	OMIM:608233
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Recurrent upper respirator...	ORPHA:583
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Small scrotum, Arachnodactyly, Camptodactyly of finger...	ORPHA:261344
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Hydrocephalus, Hyperhom...	ORPHA:395
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Knee flexion con...	OMIM:616531
Distal 7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal...	ORPHA:261102
Hennekam Syndrome	Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, S...	ORPHA:2136
Multiple Sulfatase Deficiency	Hepatomegaly, Broad hallux phalanx, Short stature, Joint stiffness, Splenomegaly, Hydrocephalus, ...	ORPHA:585
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of neutrophils, Splenomegaly, Res...	ORPHA:33226
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Thoracolum...	OMIM:252500
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral...	OMIM:231670
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Hydrocephalus, Growth delay, Bone marrow hypocellularity, Pelvic ...	OMIM:617244
22Q11.2 Deletion Syndrome	Polyhydramnios, Hyperthyroidism, Abnormal lung lobation, Hypoplasia of the thymus, Abnormality of...	ORPHA:567
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria	OMIM:615026
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Abnormality of thumb phalanx, Clinod...	ORPHA:235
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Osteoporosis, Intrauterine...	ORPHA:48431
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97282
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Cachexia, Opisthotonus, Failure to thrive,...	ORPHA:206436
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Adrenal hypoplasia, Morgagni diaphragmatic hernia, Periorbital edema, Hypoplasia of t...	OMIM:613177
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Polyhydramnios, Joint stiffness, Hypoplastic ilia, Wide an...	ORPHA:1860
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Bipolar affective disorder, Sh...	ORPHA:77293
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Hemolytic anemia, Autoimmun...	ORPHA:647
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:212138
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Ascite...	ORPHA:97280
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Ventriculomegaly, Brachydactyly, Precocious puberty, Patent duc...	ORPHA:2637
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Dextrocardia	Congenital hip dislocation, Abnormal reproductive system morphology, Abnormality of the spleen, H...	ORPHA:1666
Sialidosis Type 1	Skeletal muscle atrophy, Ataxia, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, G...	ORPHA:812
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Amyloidosis, Hereditary, Transthyretin-Related	Pulmonary edema, Urinary incontinence, Cardiomegaly, Tremor, Impotence, Increased CSF protein con...	OMIM:105210
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, In...	OMIM:608885
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Lethargy, F...	OMIM:237300
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati...	OMIM:269700
Joubert Syndrome 33	Splenomegaly, Apnea, Ataxia, Syndactyly	OMIM:617767
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gon...	ORPHA:64739
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Short stature, Cachexia, Lymphedema, Hashimoto thyroiditis, Joint...	ORPHA:109
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Omphalocele, Hypospadias, Congenital diaphragmatic hernia, Hyd...	ORPHA:1335
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus, Bicornuate uterus	OMIM:258320
Central Precocious Puberty In Male	Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad...	ORPHA:649929
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Hydrocephalus, Renal cyst, Polycystic ovaries, Lethargy, Failure to t...	ORPHA:137675
Muscular Dystrophy, Barnes Type	Myopathy, Muscular dystrophy	OMIM:158800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I dia...	OMIM:620365
Schinzel-Giedion Syndrome	Renal cyst, Tibial bowing, Hepatoblastoma, Myeloid leukemia, Micropenis, Streak ovary, Hypospadia...	ORPHA:798
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased...	ORPHA:1855
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu...	ORPHA:534
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Proteinuria, Joint stiffness, Heparan sulfate excretion in urin...	ORPHA:505248
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Lethargy	OMIM:616483
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect...	ORPHA:79128
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis, Craniosynostosis	OMIM:148800
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Lymphedema, Joint ...	ORPHA:584
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Mosaic Variegated Aneuploidy Syndrome	Apnea, Rhabdomyosarcoma, Abnormal lung lobation, Acute lymphoblastic leukemia, Muscular dystrophy...	ORPHA:1052
Biemond Syndrome Ii	Abnormality of the endocrine system, Preaxial hand polydactyly, Hydrocephalus, Short stature	OMIM:210350
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98754
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Anterior concavity of thoracic vertebrae, Limb ataxia, Persistence of hemoglobi...	OMIM:617101
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Rena...	OMIM:611555
Cystinosis, Nephropathic	Metaphyseal widening, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight pr...	OMIM:219800
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology, Scarring	ORPHA:398189
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemi...	ORPHA:95409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Adducted thumb, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:614643
Toxic Epidermal Necrolysis	Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Renal ins...	ORPHA:537
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Hypospadias, Sandal gap, Craniosynostosis, Precocious pubert...	ORPHA:254346
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Congenital muscular dystrophy	ORPHA:324416
Meningococcal Meningitis	Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, CSF pleoc...	ORPHA:33475
Citrullinemia, Classic	Hepatomegaly, Hypoargininemia, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammoni...	OMIM:215700
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di...	ORPHA:563609
Mulibrey Nanism	Hepatomegaly, Short stature, Cardiomegaly, Enamel hypoplasia, Hydrops fetalis, Growth delay, Intr...	OMIM:253250
Acalvaria	Omphalocele, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Abnormal lung lobation, Hol...	ORPHA:945
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Atelectasis, Achilles tendon contracture, Dec...	ORPHA:254361
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, Left ventricular hypertro...	ORPHA:90065
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intr...	OMIM:610910
Huntington Disease	Inability to walk, Weight loss, Abnormal circulating cholesterol concentration, Gait disturbance,...	ORPHA:399
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Dystonia, Abnormal circulating carnitine concentration, Choreoathetosis, Decre...	ORPHA:431361
Orofaciodigital Syndrome Xvii	Short stature, Short middle phalanx of the 2nd finger, Central Y-shaped metacarpal, Partial dupli...	OMIM:617926
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Elevated circulating creatine kinase concentration, Myofibrillar myopathy, E...	OMIM:609452
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Idiopathic Intracranial Hypertension	Lethargy, Obesity, Depression	ORPHA:238624
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Inguinal hernia, Short stature, Abnormality of the tonsils, Joi...	ORPHA:579
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Hajdu-Cheney Syndrome	Osteopenia, Hernia, Decreased skull ossification, Partial absence of toe, Hepatomegaly, Hypospadi...	ORPHA:955
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Hepatomegaly, Sagittal craniosynostosis, Bro...	OMIM:218330
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:98793
Congenital Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Edema, Respiratory tract infection, Hydrocephalus, Hepatosplenomeg...	ORPHA:93400
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Male infertility, Pneumonia, Asplenia, Atelectasis, Absent outer dyn...	OMIM:244400
Distal Triplication 15Q	Abnormal external genitalia, Arachnodactyly, Craniosynostosis, Large for gestational age, Hydroce...	ORPHA:314588
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Abnormal skele...	ORPHA:142
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Chy...	ORPHA:90363
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma mor...	ORPHA:1332
Meckel Syndrome, Type 3	Hepatomegaly, Malformation of the hepatic ductal plate, Postaxial hand polydactyly, Postaxial foo...	OMIM:607361
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy, Ovarian neoplasm	ORPHA:2221
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Short stature, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility	ORPHA:2058
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Polyhydramnios,...	OMIM:176270
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Lymphadenopathy, Increased circulating IgM level, Recurrent upp...	OMIM:605258
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru...	OMIM:194072
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Postural tremor, Hydrocephalus, Flexion contracture, ...	ORPHA:99947
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177904
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Diabetic Embryopathy	Ureteral duplication, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Abnormal morpho...	ORPHA:1926
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Micromelia, Short neck, Splenomegaly, Flared metaphysis, Vert...	OMIM:602557
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Arachnodactyly, Polyhydramnios, Cryptorchidism, Hydrocephalus, Fle...	OMIM:310400
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,...	OMIM:180300
Maternal Uniparental Disomy Of Chromosome 6	Ventriculomegaly, Clitoral hypertrophy, Inguinal hernia, Hydrocele testis, Slender long bone, Inc...	ORPHA:96181
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Short stature, Pulmonary hypoplasia	OMIM:618174
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short stature, Polyhydramnios, Coxa valga, Hydrocephalus, Colpocephaly, Distal arthrogryposis, Ha...	OMIM:619833
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, De...	OMIM:616299
Neu-Laxova Syndrome	Skeletal muscle atrophy, Micromelia, Flexion contracture, Large hands, Muscular dystrophy, Pulmon...	ORPHA:2671
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim...	ORPHA:177901
Seckel Syndrome	Short stature, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Sandal gap, Cone-sh...	ORPHA:808
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Edema, Pulmonary edema	OMIM:267450
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy, Flexion contracture	OMIM:617105
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Failure to thrive, Ventriculomegaly, Limb dystonia	ORPHA:319199
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypopla...	ORPHA:2232
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Arachnodactyly, Abnormality of neutrophils, Hydrocephalus, Reduced bone mineral de...	ORPHA:2720
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pneumothorax, Bronchiectasis, Lymphadenopathy, Weight loss, Pleural effusion	ORPHA:411703
Isolated Succinate-Coq Reductase Deficiency	Skeletal muscle atrophy, Ataxia, Knee flexion contracture, Weight loss, Distal amyotrophy, Skelet...	ORPHA:3208
Bronchopulmonary Dysplasia	Small for gestational age, Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestrat...	ORPHA:70589
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Short stature, Pseudoepiphyses of the metacarpals, Coxa val...	OMIM:618150
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Short stature, Conjugated hyperbilirub...	ORPHA:168577
6P22 Microdeletion Syndrome	Finger syndactyly, Hydrocephalus, Patent ductus arteriosus, Hernia, Clinodactyly, Hydronephrosis	ORPHA:251046
46,Xy Sex Reversal 4	Recurrent otitis media, Distal symphalangism, Elevated circulating creatinine concentration, Incr...	OMIM:154230
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Mucolipidosis Type Ii	Recurrent respiratory infections, Hip contracture, Inguinal hernia, Short stature, Craniosynostos...	ORPHA:576
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmonary arteri...	ORPHA:71493
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Rhizomelia, Elbow contracture, Hydrocephalus, Paten...	OMIM:618162
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic stea...	OMIM:124000
Rett Syndrome	Short foot, Short stature, Cachexia, Dystonia	OMIM:312750
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Stiff neck, Pneumonia, Abnormal cerebrospinal fluid morphology, Respiratory ...	ORPHA:68
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),...	ORPHA:280365
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Patent ductus arteriosus, Recurrent upper respiratory tract infections...	OMIM:619769
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hand muscle weakness, Fatty re...	ORPHA:98908
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Organic aciduria, Lethargy, Elevated urinary 3-methylcrotonylglycine level, 3-hyd...	OMIM:253270
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym...	OMIM:617827
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Failure to thrive, Short stature, Overweight, Cryptorchidism, Hydrocephalus, Flexion contracture,...	ORPHA:500055
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple...	OMIM:257220
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Achilles te...	OMIM:615418
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Restrictive ventilato...	ORPHA:663
6Q25 Microdeletion Syndrome	Short stature, Camptodactyly of finger, External genital hypoplasia, Rocker bottom foot, Clinodac...	ORPHA:251056
Oculopharyngodistal Myopathy 1	Respiratory distress, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase con...	OMIM:164310
Cockayne Syndrome A	Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,...	OMIM:216400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Short stature, Abnormal hemoglobin, Joint stiffness, Cr...	ORPHA:847
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Arachnodactyly, ...	ORPHA:83617
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Neut...	OMIM:616395
Jacobsen Syndrome	Recurrent respiratory infections, Hypospadias, Cryptorchidism, Hydrocephalus, Flexion contracture...	OMIM:147791
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Ataxia, Fetal ascites, Bone-marrow foam cells, Splen...	OMIM:607625
Prader-Willi Syndrome	Osteopenia, Small scrotum, Decreased response to growth hormone stimulation test, Edema, External...	ORPHA:739
Genitopalatocardiac Syndrome	Brachydactyly, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Crypto...	ORPHA:2075
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Small scrotum, Overlapping fingers, Overlapping toe, Edema, Pericardial effusio...	OMIM:617822
Gm1-Gangliosidosis, Type I	Hepatomegaly, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypoplastic vertebral b...	OMIM:230500
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Opisthotonus, Tibial bowing, Hepatoblastoma, Micr...	OMIM:269150
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Polyhydramnios, Splenomeg...	OMIM:261515
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Opisthotonus, Organic aciduria,...	OMIM:210210
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Hypospadias, Joint hypermobility, Broad hallux, Tapered finger, Cryptorchidism, Sh...	OMIM:618659
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Growth delay, Pleural effusion, As...	ORPHA:2414
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormo...	ORPHA:97287
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Short stature, Diabetes insipidus, Splenom...	OMIM:225750
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Growth delay, Osteopetrosis, Reduced r...	OMIM:618541
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Mono...	ORPHA:91139
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Edema, Elevated circulating growth hormone concentration, Splenomega...	ORPHA:2796
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Short stature, Maternal diabetes, Cryptorchidism, Long penis, Coxa ...	ORPHA:1988
Joubert Syndrome 1	Central apnea, Ataxia, Episodic tachypnea, Postaxial hand polydactyly, Postaxial foot polydactyly...	OMIM:213300
Stevens-Johnson Syndrome	Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Dyspareun...	ORPHA:36426
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbin...	ORPHA:79127
Huntington Disease-Like 1	Depression, Abnormal shoulder morphology, Bradykinesia, Weight loss, Ventriculomegaly	ORPHA:157941
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Short stature...	ORPHA:163979
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat...	OMIM:188400
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
3C Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Ventriculomegaly, Hypospadias, Inguinal he...	ORPHA:7
17P13.3 Microduplication Syndrome	Hypoplasia of penis, Congenital hip dislocation, Inguinal hernia, Clinodactyly of the 5th finger,...	ORPHA:217385
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom...	ORPHA:729
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Severe short stature, Broad long bones, Bowing of the legs, Hypoplastic ilia, Cryp...	ORPHA:1865
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ventriculomegaly, Short stature, Anemia, Bone marrow hypocellulari...	ORPHA:3322
Multifocal Atrial Tachycardia	Cryptorchidism, Hypothyroidism, Lethargy	ORPHA:3282
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, In...	OMIM:619708
Gaucher Disease Type 3	Recurrent respiratory infections, Increased bone mineral density, Pancytopenia, Hepatomegaly, Pro...	ORPHA:77261
Hurler-Scheie Syndrome	Hepatomegaly, Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, S...	OMIM:607015
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Lipodystrophy, Congenital Generalized, Type 1	Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati...	OMIM:608594
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscle weakness, ...	ORPHA:600
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Increased CSF lactate, Proximal tubulo...	ORPHA:2609
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Wide anterior fontanel, Hydrocephalus, D...	ORPHA:15
Craniofacial Dyssynostosis With Short Stature	Short stature, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Horseshoe ki...	OMIM:218350
Nephroblastoma	Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Recurrent respiratory infections, Postnatal growth retardation, Peripheral edema, P...	ORPHA:75249
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ...	ORPHA:99827
Cornelia De Lange Syndrome 2	Short stature, Limited elbow movement, Proximal placement of thumb, Postnatal growth retardation,...	OMIM:300590
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Alexander Disease	Hydrocephalus, Increased CSF protein concentration, Apathy	OMIM:203450
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Lymphangioleiomyomatosis	Recurrent respiratory infections, Abnormal urinary color, Lymphedema, Atelectasis, Hydrocephalus,...	ORPHA:538
Fried Syndrome	Hydrocephalus	ORPHA:85335
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Elevated circulating creatine kin...	ORPHA:206569
Cyclic Vomiting Syndrome	Growth delay, Lethargy	OMIM:500007
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Increased bone mineral density, Cryptorchidism, Ambiguous genitalia,...	ORPHA:1237
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen...	OMIM:311250
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Hypoglycinemia, Short stature, Megaloblastic anemia, Adducted thumb, Hyposerinem...	ORPHA:79351
Hennekam-Beemer Syndrome	Camptodactyly of finger, Pneumonia, Respiratory insufficiency, Clinodactyly of the 5th finger, Sc...	ORPHA:2135
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recu...	OMIM:230900
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Short stature, Cryptorchidism, Hydrocephal...	ORPHA:250989
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Hypoplasia of penis, Short stature, Abnorma...	ORPHA:2323
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Hemolytic anemia, Recurrent intrapulmonary hemorrhage, Abnormal...	ORPHA:906
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Diaphragmatic eventration, Syndactyly, Hepatomegaly, Congenit...	OMIM:619488
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy, Increased circulating IgM level, Recurrent upper and lower respira...	OMIM:608106
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Desmosterolosis	Ventriculomegaly, Failure to thrive, Rhizomelia, Generalized osteosclerosis, Hydrocephalus, Ambig...	OMIM:602398
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyo...	ORPHA:681
Cryptococcosis	Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymph...	ORPHA:1546
Cockayne Syndrome B	Tremor, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing,...	OMIM:133540
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Cryptorchidism, Patent ductus arteriosus, Growth delay, Camptodacty...	OMIM:179613
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	ORPHA:2388
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Kyphosis, ...	ORPHA:2461
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Drumstick terminal phalan...	OMIM:612938
Asbestos Intoxication	Edema, Atelectasis, Pleural thickening, Mediastinal lymphadenopathy, Abnormal pulmonary interstit...	ORPHA:2302
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Cough, Infectious e...	ORPHA:3386
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Hepatitis, Hyperammonemia, Hyperorni...	ORPHA:415
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Failure to thrive, Short stature, Patent ductus arteriosus after premature ...	OMIM:618460
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Rhabdomyolysis, Hepatitis,...	ORPHA:509
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Lowry-Maclean Syndrome	Osteopenia, Inguinal hernia, Hypospadias, Craniosynostosis, Congenital diaphragmatic hernia, Bila...	ORPHA:2409
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Elevated circulating ...	ORPHA:90038
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hitchhiker thumb, Spina bifida, Hydrocephalus, Myelomeningoc...	ORPHA:2437
Fg Syndrome Type 1	Limited elbow extension and supination, Inguinal hernia, Finger syndactyly, Hypospadias, Progress...	ORPHA:93932
Frasier Syndrome	Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula...	ORPHA:347
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,...	OMIM:612444
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Abnormal ci...	ORPHA:79277
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Cryptorchidism, Shawl scrotum, Micropenis,...	OMIM:615433
Meckel Syndrome	Ureteral duplication, Asplenia, Urethral atresia, Dandy-Walker malformation, Accessory spleen, En...	ORPHA:564
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Panhypopituitari...	ORPHA:2162
Familial Hypoaldosteronism	Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul...	ORPHA:427
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Short stature, Congenital diaphragmatic hernia, Proximal place...	ORPHA:251071
Bloom Syndrome	Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper r...	OMIM:210900
Gm1-Gangliosidosis, Type Iii	Short stature, Flared iliac wing, Decreased beta-galactosidase activity, Dystonia, Hypoplastic ac...	OMIM:230650
Bronchogenic Cyst	Abnormal peritoneum morphology, Back pain, Abnormality of the cervical spine, Pulmonary cyst, Pne...	ORPHA:2357
Neuroblastoma, Susceptibility To, 1	Ataxia, Abdominal mass, Weight loss, Failure to thrive, Anemia	OMIM:256700
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Dyskeratosis Congenita	Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Shor...	ORPHA:1775
Nephronophthisis 16	Enlarged kidney, Periportal fibrosis, Cholestasis	OMIM:615382
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Hydrocephalus, Cardiomegaly	OMIM:300886
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Cryptorchidism, Patent ductu...	OMIM:619797
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic ...	ORPHA:469
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Infant Acute Respiratory Distress Syndrome	Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema	ORPHA:70587
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Hyd...	OMIM:187600
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Long fibula, A...	ORPHA:935
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Eisenmenger Syndrome	Respiratory distress, Brain abscess, Hepatomegaly, Elevated circulating C-reactive protein concen...	ORPHA:97214
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Pyruvate Carboxylase Deficiency	Tremor, Dehydration, Subependymal cysts, Increased CSF glutamate concentration, Decreased CSF glu...	ORPHA:3008
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty...	OMIM:619879
Combined Oxidative Phosphorylation Deficiency 14	Ventriculomegaly, Copper accumulation in liver, Increased CSF lactate, Anemia, Growth delay, Amin...	OMIM:614946
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Ventriculomegaly, Decreased response to growth hormone stimulation test, Patchy osteosclerosis, D...	OMIM:241410
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Short stature, Overlapping toe, Down-sloping shoulders, Tapered finger, Cryptorchidism, Flexion c...	OMIM:617452
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Post...	ORPHA:52417
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Facial hypotonia, Pneumonia, Craniosynostosis, Short neck, Ataxia, Hepatosplenomega...	ORPHA:309282
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa...	ORPHA:90652
Semilobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma...	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Decreased response to growth hormone stimulation test, Diabetes insipidus, Abnorma...	ORPHA:93924
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Ataxia, Breathing dysregulation	OMIM:610688
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Limb joint contracture, Short stature, A...	ORPHA:505237
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Short stature, Dystonia,...	ORPHA:51
Hereditary Renal Hypouricemia	Back pain, Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased cir...	ORPHA:100075
Viss Syndrome	Polyhydramnios, Generalized joint laxity, Increased circulating IgG level, Emphysema, Hypothyroid...	OMIM:619472
Endocrine-Cerebroosteodysplasia	Small scrotum, Polyhydramnios, Adrenal hypoplasia, Preaxial polydactyly, Tibial bowing, Sex rever...	OMIM:612651
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short stature, Tapered finger, Hydrocephalus, Flexion contra...	ORPHA:261290
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Abnormal lung morphology, We...	ORPHA:767
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:252900
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital...	ORPHA:397715
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Polyhydramnios, Congenital contracture, Chylothorax	OMIM:619036
Lenz-Majewski Hyperostotic Dwarfism	External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ...	ORPHA:2658
Woodhouse-Sakati Syndrome	Osteopenia, Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian...	ORPHA:3464
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Cryptorchidism, Hydrocephalus, Short stature, Brachydactyly	ORPHA:2701
Martsolf Syndrome 1	Enlarged sylvian cistern, Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis...	OMIM:212720
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Multiple joint contractures, Hepatosplenomegaly, Growth delay, Ventriculomegaly	ORPHA:466934
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Epidermolysis Bullosa Simplex With Pyloric Atresia	Flexion contracture, Elevated circulating creatine kinase concentration, Muscular dystrophy	ORPHA:158684
Giant Cell Arteritis	Renal insufficiency, Abnormal pleura morphology, Joint stiffness, Recurrent pharyngitis, Mediasti...	ORPHA:397
Meckel Syndrome, Type 6	Absent gallbladder, Postaxial hand polydactyly, Bilobed right lung, Postaxial foot polydactyly, C...	OMIM:612284
Edinburgh Malformation Syndrome	Joint stiffness, Long fingers, Hydrocephalus, Ulnar deviation of finger, Failure to thrive, Slend...	ORPHA:1895
Trichohepatoneurodevelopmental Syndrome	Bilateral coxa valga, Clinodactyly of the 5th finger, Hepatomegaly, Fibular bowing, Decreased liv...	OMIM:618268
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Dyspnea, H...	OMIM:187300
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Elevated circulating urop...	OMIM:263700
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal ...	OMIM:300863
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Repeated pneumotho...	ORPHA:536467
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Splenomegaly, Spherocytosis, Hyperinsulinemia, Short 5th metacarpal	ORPHA:66518
Combined Oxidative Phosphorylation Deficiency 55	Ventriculomegaly, Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine ki...	OMIM:619743
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Xq12-Q13.3 Duplication Syndrome	Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating creatine kinase...	ORPHA:314389
Marfan Syndrome	Osteopenia, Inguinal hernia, Arthralgia/arthritis, Spontaneous pneumothorax, Arachnodactyly, Limi...	ORPHA:558
Monosomy 18Q	Short stature, Arachnodactyly, Tapered finger, Bilateral cryptorchidism, Secondary growth hormone...	ORPHA:1600
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis, Reduced alpha/beta synthesi...	OMIM:301040
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca...	ORPHA:59303
Pseudoaminopterin Syndrome	Limited elbow movement, Asplenia, Patchy reduction of bone mineral density, Synostosis of carpal ...	ORPHA:221120
Pelvis-Shoulder Dysplasia	Syndactyly, Hydranencephaly, Short stature, Camptodactyly of finger, Spina bifida, Mesomelic/rhiz...	ORPHA:2839
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Edema, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iro...	ORPHA:100078
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Behçet Disease	Myositis, Pulmonary embolism, Infectious encephalitis, Acne, Ataxia, Retrobulbar optic neuritis, ...	ORPHA:117
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Cryptorchidi...	ORPHA:251066
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Heparan sulfate excretion in urine, Re...	OMIM:252920
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Medulloblastoma	Elevated hepatic transaminase, Hydrocephalus, Neoplasm of the lung, Lethargy, Intention tremor	ORPHA:616
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia	ORPHA:464453
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, El...	OMIM:227810
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Per...	OMIM:616843
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull, P...	OMIM:609993
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Decreased response to growth hormone stimulation test, ...	ORPHA:64
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Diabetes mellitus, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent...	ORPHA:500159
Hydrocephalus, Congenital, 3, With Brain Anomalies	Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation, Ven...	OMIM:617967
Kagami-Ogata Syndrome	Hepatomegaly, Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Splenomegaly, Flexion co...	OMIM:608149
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, ...	ORPHA:2020
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Central hypoventilation, Abnormal muscle ...	ORPHA:171881
Mucopolysaccharidosis Type 3	Adenoiditis, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Aspiration pneumoni...	ORPHA:581
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Perry Syndrome	Tremor, Depression, Apathy, Weight loss	ORPHA:178509
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated...	ORPHA:3243
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hydrocephalus, Hypogonadism, Obesity	OMIM:601794
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, A...	ORPHA:79318
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility	OMIM:615872
Bresek Syndrome	Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Renal hypoplasia, Growth delay, Vesico...	ORPHA:85284
Encephalitis Lethargica	Stiff neck, Urinary incontinence, Tremor, Increased circulating antibody level, Lethargy, Increas...	ORPHA:83600
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227990
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal femur morpho...	ORPHA:666
Posterior Urethral Valve	Renal insufficiency, Urinary incontinence, Dysuria, Postnatal growth retardation, Urethral stenos...	ORPHA:93110
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu...	ORPHA:319487
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Spontaneous, recurrent epistaxis, Pulmonary arteriovenous malformation, Dyspnea, C...	OMIM:600376
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Dehydration, Weight loss, G...	ORPHA:95427
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy...	ORPHA:2330
Baraitser-Winter Syndrome 1	Short stature, Postnatal growth retardation, Cryptorchidism, Duplication of phalanx of hallux, Pa...	OMIM:243310
Turner Syndrome Due To Structural X Chromosome Anomalies	Short neck, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,...	ORPHA:99413
Mosaic Monosomy X	Short neck, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,...	ORPHA:99228
Monosomy X	Short neck, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,...	ORPHA:99226
Turner Syndrome	Short neck, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibrosis,...	ORPHA:881
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Palpebral edema, Small for gestational age, Scarring, Microcytic anem...	ORPHA:99843
Noonan Syndrome 14	Scapular winging, Short neck, Cryptorchidism, Kyphosis, Cubitus valgus, Clinodactyly, Lymphopenia...	OMIM:619745
Hogue-Janssen Syndrome 2	Broad hallux, Joint hypermobility, Postaxial polydactyly, Unilateral renal agenesis, Hydrocephalu...	OMIM:616362
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul...	OMIM:619355
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodular goiter, Chronic lu...	ORPHA:97290
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Hydrocephalus, Myelomeningocele, Epiphyseal stippling, Intrauterine growth retarda...	ORPHA:1914
Campomelic Dysplasia	Anterior tibial bowing, Polyhydramnios, Delayed epiphyseal ossification, Patellar hypoplasia, Fem...	OMIM:114290
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventriculomegaly, Cranio...	ORPHA:33364
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi...	OMIM:220210
Tetrasomy 5P	Recurrent respiratory infections, Pericallosal lipoma, Overlapping toe, Short hallux, Postnatal g...	ORPHA:3309
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Hypospadias, Short stature, Short hallux, Pseudoepiphyses of ...	OMIM:194190
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Tremor, Thrombocytopenia, Athetosis, Dystonia, Intrauterine growth retardation, Ventriculomegaly	OMIM:617710
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Arachnodactyly, Postnatal growth retardation, Cryptorchidism, Metatarsus adductus,...	OMIM:612513
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ...	OMIM:611134
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Respiratory tract infection, Tremor, Long fingers, Flexion contracture, Limb trem...	OMIM:218000
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Ivic Syndrome	Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis...	ORPHA:2307
Ellis Van Creveld Syndrome	Failure to thrive, Hydroureter, Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, ...	ORPHA:289
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Ele...	ORPHA:94080
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Hydrocephalus, Lamb...	OMIM:616294
Ppoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97278
Gorlin Syndrome	Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Cryptorchidism, Hydrocephalus, B...	ORPHA:377
Isotretinoin-Like Syndrome	Inguinal hernia, Postnatal growth retardation, Hydrocephalus, Patent ductus arteriosus, Hypocalce...	ORPHA:2306
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Cowden Syndrome 1	Kyphosis, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cyst, Ovar...	OMIM:158350
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma...	OMIM:275000
Polyendocrine-Polyneuropathy Syndrome	Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin ...	OMIM:616113
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spi...	OMIM:182940
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Congenital diaphragmatic hernia, Cardiomegaly, Shoulder dislocation, Dislocated radia...	OMIM:245600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Ventriculomegaly, Inguinal hernia, Hypospadias, Overlapping toe, Increased mean platelet volume, ...	ORPHA:487796
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Mednik Syndrome	Cirrhosis, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain fatty acid concen...	OMIM:609313
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocep...	ORPHA:8
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Cryptorchidism, Growth delay, Intrau...	ORPHA:2083
Premature Ovarian Failure 8	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Takenouchi-Kosaki Syndrome	Ventriculomegaly, Inguinal hernia, Hypospadias, Overlapping toe, Increased mean platelet volume, ...	OMIM:616737
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia, Ventriculomegaly	OMIM:613730
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Hydrocephalus, Renal hypoplasia, Growth d...	OMIM:614083
Zygomycosis	Brain abscess, Fasciitis, Diabetes mellitus, Renal insufficiency, Periorbital edema, Atelectasis,...	ORPHA:73263
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Toe syndactyly, Joint stiffnes...	ORPHA:819
Cousin Syndrome	Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, Hypoplastic ...	OMIM:260660
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus, Short stature, Cachexia	ORPHA:220295
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Tsh-Secreting Pituitary Adenoma	Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona...	ORPHA:91347
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Johanson-Blizzard Syndrome	Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot...	OMIM:243800
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly	OMIM:601539
Chromosome 18Q Deletion Syndrome	Joint laxity, Recurrent respiratory infections, Inguinal hernia, Toe syndactyly, Hypospadias, Dec...	OMIM:601808
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Severe short stature, Broad long bones, Hydrocephalus, L...	OMIM:224400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Short stature, Polyhydramnios, Lymphedema, Postna...	OMIM:613563
Renal Nutcracker Syndrome	Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Infertility...	ORPHA:71273
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,...	ORPHA:440437
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Platyspondyly, Beaking of vertebr...	ORPHA:79255
Achondroplasia	Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Polyhydramnios, Bowing of the le...	OMIM:100800
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Bilateral trilobed lung, Hepatomegaly, Congenital hip dislocation, Block vertebrae, ...	OMIM:306955
Autosomal Recessive Primary Microcephaly	Short stature, Unilateral renal agenesis, Growth delay, Vesicoureteral reflux, Abnormal cortical ...	ORPHA:2512
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Short stature, Decreased response to growth hormone stimu...	OMIM:616007
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Hydrocephalus, Humeroradial synostosi...	OMIM:207410
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Ventriculomegaly, Contracture of the proximal interphalangeal joint of the 2nd finger...	OMIM:612394
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyly, Renal cyst, Knee flex...	OMIM:210710
Cocaine Intoxication	Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Diffuse alve...	ORPHA:90068
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Cryptorchidism, Dystonia, Failure to thrive, Ventriculomegaly	ORPHA:88639
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Hydrocephalus, Joint hyperflexibility, Shoulder dislocation, Umbilical hernia, Ad...	ORPHA:2181
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Asp...	OMIM:273395
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor...	OMIM:263520
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Truncal titubation, Opisthotonus, Dystonia, Lethargy, Craniofacial dystonia, Action tremor	OMIM:607483
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	ORPHA:361
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Pulmonary artery ste...	ORPHA:3384
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia	OMIM:619057
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Clubbing, In...	ORPHA:747
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure	ORPHA:60
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi...	ORPHA:1647
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Inguinal hernia, Congenital hip dislocation, Bowing of the long bones, Hydrocephalus,...	OMIM:612940
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Hydr...	ORPHA:3301
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short stature, Polyhydramnios, Splenomegaly,...	OMIM:115150
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Patent ductus arteriosus, Postaxial hand polydactyly, Da...	OMIM:220220
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228302
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin...	ORPHA:466677
Optic Pathway Glioma	Precocious puberty, Hydrocephalus, Growth delay	ORPHA:2086
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Edema, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia, St...	ORPHA:309031
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hypokalemia, Rhabdomyolysis, Weight loss	OMIM:188580
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Hydrocephalus, Short stature	OMIM:300558
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Hypospadias, Short stature, Cryptorchidism, Hydrocepha...	OMIM:102500
Parathyroid Carcinoma	Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating parathyroid h...	ORPHA:143
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar...	ORPHA:536
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerar...	ORPHA:1812
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100080
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Exertional dyspnea	ORPHA:90033
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Multiple joint contractures, Congenital hip dislocation, Overlapping fingers, Polyhydramnios, Fem...	OMIM:618291
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Polyhydramnios, Cardiomegaly, Abnormal finger morpho...	ORPHA:3472
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal lung lobation, Nephrocalcinosis, A...	ORPHA:264450
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Hydrocephalus, Anasarca, Peripheral edema, Pleural effusion, ...	OMIM:261740
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Craniosynostosis	ORPHA:1528
Meier-Gorlin Syndrome 1	Flexion contracture, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clinodactyly of...	OMIM:224690
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Dandy-Walker malformation, Genu varum, Intention t...	OMIM:264090
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta...	OMIM:610978
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Ketonuria, Hypospadias, Small for gestational age, Tremor, Microvesicular hepati...	OMIM:220111
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, O...	OMIM:614204
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Streak ovary, Hypospadias, Joint stiffness, Cryptorchidism, Uterus didel...	OMIM:618820
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Joint hyperflexibility, Hand polydactyly, Foot ...	ORPHA:60040
Nephronophthisis 18	Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Portal ...	OMIM:615862
Chondrodysplasia Punctata 2, X-Linked Dominant	Ventriculomegaly, Rhizomelia, Polyhydramnios, Edema, Postnatal growth retardation, Postaxial poly...	OMIM:302960
Intellectual Developmental Disorder, Autosomal Dominant 51	Long toe, Unilateral cryptorchidism, Cryptorchidism, Failure to thrive, Ventriculomegaly	OMIM:617788
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehydration, Hypo...	ORPHA:173
Chromosome 17P13.1 Deletion Syndrome	Joint laxity, Hallux valgus, Arachnodactyly, Broad hallux, Spina bifida, Proximal placement of th...	OMIM:613776
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Cardiomegaly, Pericardial effusion, Ascites, Pulmonary edema	OMIM:115197
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture,...	OMIM:268300
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Keratitis, Splenomegaly, Retrobul...	ORPHA:90340
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Failure to thrive, Femoral hernia, Inguinal hernia, Renal insufficiency, Cry...	ORPHA:96147
Marshall-Smith Syndrome	Large sternal ossification centers, Bilateral cryptorchidism, Distal widening of metacarpals, Cox...	OMIM:602535
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Timothy Syndrome	Pneumonia, Bronchitis, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Pulmonary arterial hyper...	OMIM:601005
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Niemann-Pick Disease Type C	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Aplasia/Hypo...	ORPHA:646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Congenital contracture, Congenital muscular dystrophy, Elevated circulating creat...	OMIM:236670
Oromandibular Dystonia	Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Depression, Limb dystonia, Lingual...	ORPHA:93958
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Hydrocephalus, ...	ORPHA:1908
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Seckel Syndrome 9	Recurrent respiratory infections, Ventriculomegaly, Small for gestational age, Short stature, Pol...	OMIM:616777
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Obesity	OMIM:616521
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Hypogonadotropic hypogonadism, Short stature, Tapered finger, Cryptorchidism...	OMIM:617159
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Hirschsprung Disease	Failure to thrive in infancy, Short stature, Weight loss, Neoplasm of the thyroid gland, Adducted...	ORPHA:388
Stickler Syndrome	Recurrent respiratory infections, Short stature, Abnormal dental enamel morphology, Cachexia, Ara...	ORPHA:828
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, H...	ORPHA:73224
Cornelia De Lange Syndrome 1	Pneumonia, Congenital diaphragmatic hernia, Micromelia, Proximal placement of thumb, Cryptorchidi...	OMIM:122470
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Short palm, Brachydactyly, Cachexia, Steatorrhea	ORPHA:3217
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Ambiguous genitalia, Micropenis, Decreased testicular size, Ventriculomegaly	OMIM:300215
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Peho Syndrome	Recurrent respiratory infections, Palpebral edema, Tapered finger, Hydrocephalus, Flexion contrac...	ORPHA:2836
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Severe short stature, Rhizomelia, Urinary incontinence, Wide anterior fontanel, Hy...	OMIM:616482
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthri...	OMIM:142680
Hydranencephaly	Stiff neck, Postnatal growth retardation, Opisthotonus, Lethargy, Intrauterine growth retardation...	ORPHA:2177
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Increased skull ossification, Craniofacial osteosclerosis, Hydrocephalus, Diaph...	OMIM:618476
Perry Syndrome	Tremor, Depression, Weight loss, Bradykinesia, Apathy, Dystonia	OMIM:168605
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus	OMIM:231005
Cadds	Elevated hepatic transaminase, Cholangitis, Adrenal hypoplasia, Cholestasis, Increased circulatin...	ORPHA:369942
Mitochondrial Complex I Deficiency, Nuclear Type 37	Inguinal hernia, Hypospadias, Increased CSF lactate, Growth delay, Opisthotonus, Failure to thriv...	OMIM:619272
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Ragged-red muscle fibers, Ataxia	OMIM:530000
Chops Syndrome	Short stature, Cryptorchidism, Splenomegaly, Patent ductus arteriosus, Obesity, Anomalous pulmona...	OMIM:616368
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-...	ORPHA:676
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Congenital hepatic fibrosis, Respiratory insufficiency	ORPHA:2031
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Hydroceph...	OMIM:602200
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Nonimmune hy...	ORPHA:95159
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, A...	ORPHA:163966
Slc39A8-Cdg	Osteopenia, Abnormal blood zinc concentration, Failure to thrive in infancy, Craniosynostosis, Sh...	ORPHA:468699
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis...	ORPHA:3042
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Congenital hip dislocation, Splenomegaly, Inability to walk, Hypokalemi...	OMIM:617913
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem...	OMIM:619525
Supranuclear Palsy, Progressive, 1	Akinesia, Astrocytosis, Gliosis, Gait imbalance, Retrocollis, Falls	OMIM:601104
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Short stature, Monkey wrench femoral neck, Increased nuchal translucency, Patent du...	OMIM:618870
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Inguinal hernia, Multicystic kidney dysplasia, Sandal gap, Camp...	ORPHA:261349
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Dislocated radial head	OMIM:304100
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Ovar...	ORPHA:144
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100082
Pontocerebellar Hypoplasia, Type 7	Cryptorchidism, Hydrocephalus, Opisthotonus, Choreoathetosis, Ambiguous genitalia, Micropenis, Ve...	OMIM:614969
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Inguinal hernia, Hypospadias, Short stature, Craniosynostosis, Congenital diaph...	ORPHA:96121
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Weight loss, Opisthotonus, Increased susceptibility to fractures, Aspiratio...	ORPHA:216866
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Abnormal circulating enzyme concentration or activity, Tremor, Thromboc...	ORPHA:572798
Warburg Micro Syndrome 3	Small scrotum, Postnatal growth retardation, Hypoplastic labia minora, Flexion contracture, Clino...	OMIM:614222
Waardenburg Syndrome Type 3	Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing...	ORPHA:896
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Polyhydramnios, Congenital...	ORPHA:373
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Postaxial hand polydactyly	ORPHA:83473
Tetrasomy 15Q26	Arachnodactyly, Hydrocephalus, Patent ductus arteriosus, Horseshoe kidney, Camptodactyly, Intraut...	OMIM:614846
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation, Absent distal phalanges, Short middle phalanx of fin...	OMIM:614219
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis,...	OMIM:613328
Adams-Oliver Syndrome 5	Syndactyly, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, P...	OMIM:616028
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Growth...	ORPHA:77298
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Skeletal muscle atrophy, Short humerus, Short femur, Hepatomegaly, Respir...	ORPHA:17
Kabuki Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Short stature, Congenital diaphrag...	ORPHA:2322
Dermatomyositis	Recurrent respiratory infections, Abnormal eosinophil morphology, Edema, Periorbital edema, Abnor...	ORPHA:221
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Recurrent pneumonia, Lethargy, Failure to thrive, Right ventricular h...	ORPHA:1329
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Lethargy	OMIM:229700
African Trypanosomiasis	Urinary incontinence, Tremor, Choreoathetosis, Hepatomegaly, Abnormality of the endocrine system,...	ORPHA:3385
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Short stature, Portal hypertension, Cirrhosis, Emphysema, Hepatic failure	OMIM:210050
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Hydrocephalus, Obesity, Brachydactyly	ORPHA:2180
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Lateral ventricular...	OMIM:616914
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Hypospadias, Polyhydramnios, Bifid uterus, Preaxial hand polydacty...	OMIM:236680
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Postaxial polydactyly, Hypoplastic ischia, Hydrocephalus, Ulnar bowing, Preaxial p...	OMIM:617866
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hydrolethalus	Polyhydramnios, Cryptorchidism, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Abnormal ...	ORPHA:2189
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Elevated circulating creatine kinase concentration, Unsteady gait, Knee fle...	OMIM:618733
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Short st...	ORPHA:261494
Aymé-Gripp Syndrome	Inguinal hernia, Short stature, Rocker bottom foot, Craniosynostosis, Congenital diaphragmatic he...	ORPHA:1272
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Rocker bottom foot, Hydrocephalus, Patent ductus arteriosus, Short 2nd t...	OMIM:612582
Leopard Syndrome 1	Hypospadias, Short stature, Limited elbow movement, Unilateral renal agenesis, Delayed menarche, ...	OMIM:151100
De Barsy Syndrome	Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo...	ORPHA:2962
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Supernumerary nipple, Short hallux, Truncal obesi...	ORPHA:3224
Luscan-Lumish Syndrome	Short stature, Irregular menstruation, Obesity, Advanced ossification of carpal bones, Polycystic...	OMIM:616831
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Tremor, Jaundice, Patent ductus arteriosus, Increased CSF lactate, Growth delay, 3-Meth...	OMIM:617248
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Inguinal hernia, Arachnodactyly, Craniosynostosis, Metatarsus adductus,...	OMIM:182212
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Orofaciodigital Syndrome I	Syndactyly, Pancreatic cysts, Short 2nd toe, Ovarian cyst, Polydactyly, Hepatic fibrosis, Radial ...	OMIM:311200
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplasia of penis, Hypoplastic scapulae, Toe ...	ORPHA:1512
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Limited elb...	OMIM:261540
Trichinellosis	Edema, Abnormal cerebrospinal fluid morphology, Facial edema, Periorbital edema, Increased circul...	ORPHA:863
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Short stature, Sagittal craniosynostosis, Hydrocephalus, Small hand, Tubulointer...	ORPHA:459061
Kabuki Syndrome 1	Congenital hip dislocation, Premature thelarche, Prominent fingertip pads, Micropenis, Recurrent ...	OMIM:147920
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Craniosynostosis, Cryptorchidism, Abnormality of the pancreas, Hydrocephalus, Umbi...	ORPHA:1555
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Abnormal fingertip morphology, Dyspne...	ORPHA:79404
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa...	OMIM:277590
Lateral Meningocele Syndrome	Vertebral fusion, Inguinal hernia, Neurogenic bladder, Short stature, Cryptorchidism, Hydrocephal...	OMIM:130720
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-...	ORPHA:91500
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules	OMIM:139090
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, Joint laxity, Hepatomegaly, Syndactyly,...	OMIM:613610
Jacobsen Syndrome	Long hallux, Broad hallux phalanx, Finger syndactyly, Bipolar affective disorder, Short stature, ...	ORPHA:2308
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Short stature, Hydroureter, Hydrocephal...	OMIM:259775
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin...	ORPHA:365
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Polyhydramnios, Absent radius, Hydrocephalus, Urethra...	OMIM:314390
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Hypocalcemic tetany, Thin long...	ORPHA:93325
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Wide penis, Vesicouret...	ORPHA:3455
Hydrolethalus Syndrome 2	Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Hypoplasia of penis, Hypospadias, Polyhydramnios, Adrenal hypoplasia,...	ORPHA:2166
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida, Congenital diaphragmatic hernia, Proximal placement of thumb, Short thumb, Preaxial...	ORPHA:1120
Short Syndrome	Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Diabetes...	ORPHA:3163
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Polyhydramnios, Hypoplastic ilia, Flared metaphysis, Short grea...	OMIM:187601
Progressive Non-Fluent Aphasia	Astrocytosis	ORPHA:100070
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Pedal edema, Weight loss	ORPHA:168811
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Hydrocephalus, Failure to thrive	OMIM:620157
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Short stature, Cachexia, Abnormality of the thyroid gland, Genu varum	ORPHA:1969
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Short stature, Arachnodactyly, Edema, Hiatus hernia, Proteinuria, Hi...	OMIM:617729
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis	OMIM:612247
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Vacterl With Hydrocephalus	Inguinal hernia, Femoral hernia, Polyhydramnios, Spina bifida, Aqueductal stenosis, Cryptorchidis...	ORPHA:3412
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Knee flexion contracture,...	OMIM:151050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:615287
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Ventriculomegaly, Scarring, Craniosynostosis, Decreased circulating antibody level, Growth delay,...	ORPHA:79396
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Postaxial hand pol...	OMIM:264480
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Coxa valga, Hydrocephalus, Hip dislocation, Ventriculomegaly	OMIM:109120
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Micropenis, Hepatic steatosis, Intention tremor, Joint laxity, Hypospadias, Overwe...	OMIM:619475
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Short stature, Large for gestational age, Precocious puberty, Tapered finger, Ve...	ORPHA:261652
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Ventriculomegaly, Polyhydramnios, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation...	OMIM:225790
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Failure to thrive, Multicystic kidney dysplasia, Short stature, Arachnodactyly, Poly...	OMIM:300373
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Micropenis, Pelvic kidney, Hypospadias, Tapered finger, Cryptorchidis...	ORPHA:464311
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:276621
Opitz-Kaveggia Syndrome	Syndactyly, Inguinal hernia, Multiple joint contractures, Hypospadias, Short stature, Broad hallu...	OMIM:305450
Yao Syndrome	Xerostomia, Nephrolithiasis, Weight loss, Arthritis, Pleuritis	OMIM:617321
Kawasaki Disease	Pericarditis, Skin rash, Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopathy, Jaundice,...	ORPHA:2331
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Houge-Janssens Syndrome 1	Intrauterine growth retardation, Hydrocephalus, Congenital hip dislocation, Ventriculomegaly	OMIM:616355
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Rhabdomyolysi...	ORPHA:79102
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia	ORPHA:168816
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Fasciitis, Phimosis, Urinary bladder inflammation, P...	ORPHA:99921
Cole-Carpenter Syndrome 1	Osteopenia, Communicating hydrocephalus, Short stature, Recurrent fractures, Hydrocephalus, Reduc...	OMIM:112240
Shprintzen-Goldberg Syndrome	Osteopenia, Communicating hydrocephalus, Inguinal hernia, Bowing of the long bones, Arachnodactyl...	ORPHA:2462
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Leiomyosarcoma, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, R...	ORPHA:343
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb...	OMIM:153670
Meier-Gorlin Syndrome 4	Short stature, Cryptorchidism, Patellar aplasia, Birth length less than 3rd percentile, Slender l...	OMIM:613804
Hermansky-Pudlak Syndrome	Renal insufficiency, Menometrorrhagia, Abnormal dental enamel morphology, Weight loss, Pulmonary ...	ORPHA:79430
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Subcutaneous lipoma, Cryptorchidism, Hydrocephalus, Lipoma,...	OMIM:613001
Muenke Syndrome	Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosi...	ORPHA:53271
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive, Flexion contracture, Ethylmalonic aciduria	OMIM:201470
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Decreased serum insulin-like growth factor...	ORPHA:79323
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Ambiguous genitalia, Ventriculomeg...	ORPHA:452
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Familial Mediterranean Fever	Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal ed...	ORPHA:342
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Recurrent fractures,...	ORPHA:140
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level...	OMIM:618213
Infantile Neuroaxonal Dystrophy	Ataxia, Cerebellar gliosis, Flexion contracture, Unsteady gait, Apneic episodes in infancy, Gait ...	ORPHA:35069
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Congenital diaphragmatic hernia, Aplastic clavicle, Postaxial polydactyly, Hydroc...	OMIM:616546
Muscle-Eye-Brain Disease	Holoprosencephaly, Hydrocephalus, Meningocele, Elevated circulating creatine kinase concentration	ORPHA:588
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Fontaine Progeroid Syndrome	Small scrotum, Micropenis, Recurrent aspiration pneumonia, Syndactyly, Short stature, Cryptorchid...	OMIM:612289
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Nonimmune hydrops fetalis, Hydrocephalus, Short toe, Abnormal...	OMIM:617667
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Joint hypermobility, Overweight, Tremor, Small hand, Obesity, 2-3 toe syndactyly, Ame...	OMIM:619229
Tenorio Syndrome	Osteopenia, Joint laxity, Hydrocephalus, Recurrent pneumonia, Enuresis, Hypoinsulinemia, Ventricu...	OMIM:616260
Rhombencephalosynapsis	Finger syndactyly, Hydrocephalus, Polydactyly, Abnormality of the uterus, Complete duplication of...	ORPHA:59315
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Clinodactyly of the 5th f...	ORPHA:464306
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Large for gestational age, Cryptorchidism, Ventriculomegaly, Decreased circulating I...	ORPHA:457485
Congenital Tufting Enteropathy	Dehydration, Weight loss, Arthritis, Cholestatic liver disease, Steatorrhea, Failure to thrive	ORPHA:92050
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Metaphyseal widening, D-2-hydroxyglutaric aciduria, Metaphyseal chon...	ORPHA:99646
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Growth delay, Congenital contracture, Colpocephaly, Ventriculomegaly, Brachydactyly	OMIM:620156
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Xanthine neph...	OMIM:252150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Muscular dystrophy	OMIM:253280
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Narrow great...	OMIM:312870
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric...	ORPHA:3337
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Biotinidase Deficiency	Myelopathy, Hyperammonemia, Organic aciduria, Lethargy, Decreased circulating biotinidase concent...	ORPHA:79241
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Hyp...	ORPHA:90790
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Glycosuria, Aminoaciduria, Pulmonary fi...	OMIM:618913
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Pineal cyst, Pro...	ORPHA:363958
Combined Oxidative Phosphorylation Deficiency 39	Recurrent respiratory infections, Flexion contracture, Increased CSF lactate, Congenital contract...	OMIM:618397
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Spinal dysraphism...	OMIM:612918
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Postaxial ha...	OMIM:608091
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Ventriculomegaly, Dystonia, Small for gestational age, Short stature...	OMIM:251300
Fabry Disease	Renal insufficiency, Short stature, Proteinuria, Lymphedema, Hyperlipidemia, Abnormal femur morph...	ORPHA:324
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Sandal gap, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism,...	OMIM:612530
Fetal Akinesia Deformation Sequence 1	Hip contracture, Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Elbow cont...	OMIM:208150
Mend Syndrome	Short stature, Broad hallux, Overlapping toe, Cryptorchidism, Elevated 8-dehydrocholesterol, Elev...	ORPHA:401973
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Codas Syndrome	Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Short stature, Metaphys...	OMIM:600373
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S...	OMIM:304120
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aqueductal stenosis, Foot oligo...	OMIM:154400
Alexander Disease	Osteopenia, Diabetes mellitus, Precocious puberty, Aqueductal stenosis, Hydrocephalus, Tremor, De...	ORPHA:58
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Polyhydramnios, Congenital diaphragmatic hernia, Proximal placement of thumb...	ORPHA:818
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Failure to thrive, Proteinuria...	ORPHA:1018
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Hepatomegaly, Defective production of NFKB1-dependent cytokines...	OMIM:612132
Musculocontractural Ehlers-Danlos Syndrome	Inguinal hernia, Craniosynostosis, Tapered finger, Cryptorchidism, Generalized joint laxity, Pneu...	ORPHA:2953
Stromme Syndrome	Accessory spleen, Hydrocephalus, Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis	OMIM:243605
Opitz Gbbb Syndrome	Bifid scrotum, Omphalocele, Enlarged ovaries, Ventriculomegaly, Hypospadias, Inguinal hernia, Cra...	ORPHA:2745
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Precocious puberty, Cryptorchidism, Hydrocep...	ORPHA:636
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
Pontocerebellar Hypoplasia, Type 2E	Short stature, Flexion contracture, Osteoporosis, Opisthotonus, Failure to thrive, Ventriculomegaly	OMIM:615851
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Meconium Aspiration Syndrome	Maternal diabetes, Atelectasis, Pneumothorax, Aspiration pneumonia, Intrauterine growth retardation	ORPHA:70588
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Unilateral renal ag...	ORPHA:363444
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Hypermobility ...	OMIM:130050
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Short sta...	ORPHA:96169
Goldberg-Shprintzen Megacolon Syndrome	Bifid scrotum, Finger syndactyly, Short stature, Hypospadias, Ventriculomegaly	ORPHA:66629
Cutaneous Mastocytoma	Dyspnea, Maculopapular exanthema, Lymphadenopathy	ORPHA:79455
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Overlapping toe, Craniosynostosis, Hydrocephalus, Hypoplastic labia m...	OMIM:123790
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Short toe, Hydrocephalus, Athetosis, Elevated circulating alkaline phosphatase co...	OMIM:239300
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus, Penile hypospadias	OMIM:312190
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Muscular dystrophy	ORPHA:300751
Koolen-De Vries Syndrome	Vertebral fusion, Small for gestational age, Joint hypermobility, Short stature, Cryptorchidism, ...	OMIM:610443
Crouzon Syndrome	Hydrocephalus, Multiple suture craniosynostosis	ORPHA:207
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Choreoathetosis, Calva...	OMIM:304340
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Hyperna...	ORPHA:35710
Axenfeld-Rieger Syndrome, Type 2	Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Umbilical hernia	OMIM:601499
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Diminished motivation, Urinary incontinence, Abn...	ORPHA:2356
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Recurrent respiratory infections, Short stature, Abnormality of thyroid physiology,...	OMIM:300968
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Joint hyperm...	ORPHA:314585
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Hydrocephalus, Patent ductus arteriosus, Small hand, Growth delay, Lateral ventricle ...	OMIM:612863
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Inflammatory Bowel Disease (Crohn Disease) 1	Growth delay, Weight loss	OMIM:266600
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Severe short stature, Small for gestational age, Decreased resp...	OMIM:616835
Neurooculorenal Syndrome	Ectopic posterior pituitary, Decreased circulating cortisol level, Short hallux, Unilateral renal...	OMIM:620305
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria,...	ORPHA:99885
L1 Syndrome	Aqueductal stenosis, Depression, Hydrocephalus, Adducted thumb	ORPHA:275543
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Vesicoureteral reflux, H...	OMIM:107480
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee...	ORPHA:521426
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Renal cyst, Growth delay, Dandy...	OMIM:614424
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor...	ORPHA:922
Fryns Syndrome	Omphalocele, Ventriculomegaly, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Congeni...	ORPHA:2059
1Q44 Microdeletion Syndrome	Short stature, Hydrocephalus, Horseshoe kidney, Growth delay, Vesicoureteral reflux, Ventriculome...	ORPHA:238769
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:29072
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Postaxial polydactyly, Ventriculomegaly, Knee flexion contracture	OMIM:603387
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Abnormal circulating enzyme concentration or activity, Dystonia, Tre...	ORPHA:25
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Failure to thrive, Short ...	OMIM:619575
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir...	ORPHA:99829
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Short stature, Polyhydramnios, Postaxial polydactyly, Splenomegaly, Postaxial hand ...	OMIM:617088
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Craniosynostosis, Obesity, Choreoa...	ORPHA:261197
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Short stature, Abnormal morphology of ulna, Lymphedema, Cryptorchid...	ORPHA:1340
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Abnormal pulmonary vein morphology, Clitoral hypoplasia, Cl...	ORPHA:709
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Recurren...	ORPHA:580
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Asplenia, Abnormal lung lobation, Hypospadias, Nonimmune hydrops fetalis, Pulmona...	OMIM:265380
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Broad hallux, Tapered finger, Cryptorchidism, Short thumb, Choreoathetosis, Athetosi...	OMIM:620224
Acromelic Frontonasal Dysplasia	Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchid...	ORPHA:1827
Mohr-Tranebjaerg Syndrome	Inability to walk, Agammaglobulinemia, Ankle clonus, Shuffling gait, Aspiration pneumonia	ORPHA:52368
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hydrocephalus, Cervical C5/C6...	ORPHA:87
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Inguinal hernia, Broad hallux phalanx, Short stature, Camptodactyly of finger,...	ORPHA:251014
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Torticollis, Postnatal growth retardation, Metatarsus adductus, Small hand, Genu va...	ORPHA:300570
Amish Lethal Microcephaly	Hepatomegaly, Spina bifida, Limitation of joint mobility, Osteoporosis, Organic aciduria, Decreas...	ORPHA:99742
Mohr Syndrome	Syndactyly, Short stature, Preaxial hand polydactyly, Hydrocephalus, Postaxial hand polydactyly, ...	OMIM:252100
Crouzon Syndrome	Sagittal craniosynostosis, Hydrocephalus, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:123500
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cardiomegaly, Patent ductus arteriosus, Recurrent pneumonia, Br...	ORPHA:980
Cerebrofacioarticular Syndrome	Osteopenia, Syndactyly, Hypospadias, Short stature, Lymphedema, Renal hypoplasia, Absence of pube...	ORPHA:314679
Joubert Syndrome With Renal Defect	Encephalocele, Renal insufficiency, Tremor, Hydrocephalus, Hand polydactyly, Nephropathy, Abnorma...	ORPHA:220497
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Recurrent upper respiratory tract infections, Decreased level of...	OMIM:217090
Bohring-Opitz Syndrome	Recurrent respiratory infections, Ventriculomegaly, Short stature, Cardiomegaly, Limitation of jo...	ORPHA:97297
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Small scrotum, Short stature, Supernumerary nipple, Congenital diap...	OMIM:618454
Plague	Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph...	ORPHA:707
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Ventriculomegaly, Brachydactyly, Proportionate shortening of all digits, Hydroureter, Elevated ci...	ORPHA:280633
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Clinodact...	ORPHA:3068
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Hashimoto thyr...	ORPHA:97285
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of the ulna, Short ...	OMIM:218600
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Bowing of the long bones, Short stature, Abnorm...	ORPHA:2050
Oeis Complex	Omphalocele, Congenital hip dislocation, Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, A...	OMIM:258040
Tbck-Related Intellectual Disability Syndrome	Broad toe, Neurogenic bladder, Bipolar affective disorder, Hyperthyroidism, Decreased response to...	ORPHA:488632
Vacterl Association With Hydrocephalus	Absent thumb, Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia	OMIM:276950
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st...	OMIM:305600
Congenital Disorder Of Glycosylation, Type If	Wide anterior fontanel, Flexion contracture, Renal cortical cysts, Failure to thrive, Ventriculom...	OMIM:609180
Amelocerebrohypohidrotic Syndrome	Hydrocephalus, Short stature, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1946
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Multiple joint contractures, Hypospadias, Camptodactyly of finger, Ankle f...	ORPHA:468631
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow...	OMIM:619503
Rabin-Pappas Syndrome	Hyponatremia, Failure to thrive in infancy, Hydrocephalus, Obesity, Tracheomalacia	OMIM:620155
Familial Tumoral Calcinosis	Splenomegaly, Calcification of muscles, Skin rash, Hepatomegaly	ORPHA:53715
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Hydrops fetalis, Renal cyst, Absent or minimally ossified vertebral bodies, ...	ORPHA:93271
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Oxoglutaric Aciduria	Short stature, Abnormality of Krebs cycle metabolism, Hydrocephalus, Abnormal urine alpha-ketoglu...	ORPHA:31
Monosomy 9Q22.3	Ovarian fibroma, Large for gestational age, Hydrocephalus, Joint hyperflexibility, Polydactyly, U...	ORPHA:77301
Tetrasomy 9P	Biliary atresia, Clinodactyly of the 5th finger, Micropenis, Dandy-Walker malformation, Amelogene...	ORPHA:3310
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Broad hallux phalanx, Inguinal hernia, Small for gestational age, Sandal gap, Cranios...	ORPHA:363611
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Hypospadias, Cryptorchidism, Hydrocephalus, Myelo...	OMIM:219000
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Peripheral pulmonary artery stenosis, Broad hallux, Vesicoureteral reflux, Shortening of all dist...	OMIM:614749
Aase-Smith Syndrome I	Hydrocephalus, Flexion contracture, Slender finger, Dandy-Walker malformation	OMIM:147800
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Rocker bottom foot, Edema, Postaxial polydactyly, Long fingers, Con...	OMIM:617527
Lissencephaly Due To Lis1 Mutation	Scoliosis, Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Tuberous Sclerosis Complex	Renal insufficiency, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma, ...	ORPHA:805
Mend Syndrome	Short stature, Broad hallux, Overlapping toe, Cryptorchidism, Hydrocephalus, Long fingers, 2-3 to...	OMIM:300960
Hereditary Late-Onset Parkinson Disease	Resting tremor, Spastic/hyperactive bladder, Depression, Weight loss, Bradykinesia, Apathy, Dystonia	ORPHA:411602
Chiari Malformation Type Ii	Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy	OMIM:207950
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Hypospadias, Bowed humerus, Flexion contracture, Lateral ventricle...	OMIM:619479
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Craniosynostosis, Postaxial polydactyly, Postnatal growth retard...	OMIM:605627
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exs...	ORPHA:322
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Short fourth metatarsal, Anterior pituitary hypoplasia, Polyhydramni...	OMIM:619841
Halperin-Birk Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Colpoceph...	OMIM:618651
Intellectual Developmental Disorder, Autosomal Dominant 65	Clinodactyly of the 5th finger, Noncommunicating hydrocephalus, Short foot, Short palm	OMIM:619320
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Block vertebrae, Short stature, Hydrocephalus, Myelomeningo...	OMIM:613686
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Inguinal hernia, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis...	ORPHA:457284
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte...	ORPHA:95430
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Tremor, Patent du...	OMIM:610505
Basal Cell Nevus Syndrome 1	Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Spina bifida, Hydrocephalus, Irregular...	OMIM:109400
Joubert Syndrome	Encephalocele, Tremor, Hydrocephalus, Hand polydactyly, Foot polydactyly, Abnormality of the hypo...	ORPHA:475
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Short stature, Congenital diaphragmatic hernia, Ovotestis, Hydrocephalus, Hypoplasia...	OMIM:309801
Carey-Fineman-Ziter Syndrome 1	Elevated circulating creatine kinase concentration, Tapered finger, Cryptorchidism, Flexion contr...	OMIM:254940
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Hydrocephalus, Hand polydactyly, Foot polydactyly, Nephropath...	ORPHA:2318
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Severe short stature, Foot joint contracture, Infancy onset short-trunk short st...	ORPHA:444072
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Tapered finger, Cryptorchidism, Short finger, Decreased testicular size	ORPHA:1867
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Short stature, Polyhydramnios, Limi...	OMIM:218040
Wrinkly Skin Syndrome	Osteopenia, Recurrent sinopulmonary infections, Inguinal hernia, Congenital hip dislocation, Lipo...	ORPHA:2834
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Exaggerated startle response, Overlapping toe, Flexion contracture...	OMIM:617301
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Short stature, Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Patent ductu...	OMIM:620024
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Long fingers, Cli...	OMIM:619512
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro...	ORPHA:268261
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of...	ORPHA:199
Joubert Syndrome With Ocular Defect	Encephalocele, Tremor, Hydrocephalus, Hand polydactyly, Foot polydactyly, Abnormality of the hypo...	ORPHA:220493
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb	OMIM:307000
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Polyhydramnios, Tapered finger, Hydrocephalus, Hydrocele testis, Ventriculomegaly	OMIM:613603
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Absent nipple, Hydrocephalus, Patent ductus arteriosus, U...	OMIM:104350
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Apnea, Decreased serum iron, Breathing dysregulation, Cryptorc...	ORPHA:438213
Adnp Syndrome	Joint laxity, Inguinal hernia, Short stature, Broad hallux, Sandal gap, Urinary incontinence, Abn...	ORPHA:404448
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Short stature, Aspiration pneumonia, Failure to thrive, Reduced circulating growth ho...	OMIM:616430
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ataxia, Left ventricular noncompaction, Aspiration pneumonia, Left ventricular hype...	OMIM:619167
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Hand tremor, Weig...	ORPHA:424
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Failure to thrive, Severe short stature, Hypospadias, Abnormal dental ...	ORPHA:2556
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Facial palsy, Cheilitis, Lymphadenopathy, Macroglossia	ORPHA:2483
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Slender long bone, Hydrocephalus, Joint hypermobility	OMIM:618590
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ...	OMIM:615873
Gerstmann-Straussler Disease	Tremor, Depression, Bradykinesia, Weight loss	OMIM:137440
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Thyroid C cell hyperplasia, Hyperlordosis, Kyphoscoliosis, Cervical lymphadenopath...	ORPHA:653
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Postaxial polydactyly, Polyhydramnios, Hydrocephalus, Renal corticomedullary...	OMIM:219730
Reactive Arthritis	Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, Enthesitis, We...	ORPHA:29207
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Hemangioblastoma	Hydrocephalus, Neurogenic bladder	ORPHA:252054
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, Ectrodactyly, Ol...	ORPHA:3016
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Patent ...	OMIM:313850
Distal Deletion 3P	Inguinal hernia, Short stature, Cryptorchidism, Postaxial hand polydactyly, Clinodactyly of the 5...	ORPHA:1620
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Exaggerated startle response, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Generalized joint laxity, Hypermobility of interphalangeal joints, Short palm, Clinodactyly of th...	ORPHA:508498
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Nonimmune hydrops fetalis, Lymphedema, Hydrocephalus, Abnormality of the lymp...	ORPHA:137667
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Noncommunicating hydrocephalus, Bronchiectasis, Abd...	OMIM:618699
Meningioma	Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent...	ORPHA:2495
Cerebellofaciodental Syndrome	Short stature, Tapered finger, Cryptorchidism, Shortening of all distal phalanges of the fingers,...	OMIM:616202
Kufor-Rakeb Syndrome	Oculogyric crisis, Urinary incontinence, Abnormal finger morphology, Blepharospasm, Bradykinesia,...	ORPHA:306674
Tako-Tsubo Cardiomyopathy	Obesity, Abnormal B-type natriuretic peptide concentration, Mildly elevated creatine kinase, Pulm...	ORPHA:66529
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber...	ORPHA:649
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Gliosis, Pneumonia	OMIM:608033
Dural Sinus Malformation	Myelopathy, Hydrocephalus, Apathy, Cerebral edema	ORPHA:97339
Hec Syndrome	Communicating hydrocephalus, Vaginal hydrocele, Polyhydramnios	ORPHA:2119
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Hypouricemia, Xanthine nephrolithiasis, Increased urinary sulfite...	OMIM:252160
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Ventriculomegal...	OMIM:618314
Bullous Pemphigoid	Diabetes mellitus, Weight loss	ORPHA:703
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short foot, Res...	OMIM:617809
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Patent ductus arteriosus, Hernia of the abdominal wall, Anomalous pu...	ORPHA:2184
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly	OMIM:614195
Familial Multiple Lipomatosis	Bowing of the long bones, Lipodystrophy, Increased adipose tissue, Hyperlipidemia, Ventriculomegaly	ORPHA:199276
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus, Patent ductus arteriosus, Joint hyperflexibility, Vesicou...	ORPHA:1571
Charge Syndrome	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hemivertebrae, Ha...	OMIM:214800
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Neu-Laxova Syndrome 1	Polyhydramnios, Calcaneovalgus deformity, Dandy-Walker malformation, Finger syndactyly, Spina bif...	OMIM:256520
Zttk Syndrome	Absent gallbladder, Ventriculomegaly, Unilateral lung agenesis, Short stature, Polyuria, Craniosy...	OMIM:617140
Au-Kline Syndrome	Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Supernumerary nipple, Cryptorchidis...	OMIM:616580
Sotos Syndrome	Ureteral duplication, Tremor, Flexion contracture, Pedal edema, Vesicoureteral reflux, Hypothyroi...	ORPHA:821
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Syndactyly, Cryptorchidism, Choroid plexus cyst...	OMIM:603671
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Small scrotum, Short stature, Anterior pituitary hypoplasia, Toe syndactyly, A...	ORPHA:264200
Malignant Atrophic Papulosis	Pleural effusion, Peritonitis, Weight loss	ORPHA:679
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Abnormal morphology of ulna, Sple...	ORPHA:93
Gapo Syndrome	Hepatomegaly, Ventriculomegaly, Wide anterior fontanel, Growth delay, Hypoplastic nipples, Umbili...	OMIM:230740
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sa...	ORPHA:79500
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Hand tremor, Weight loss, Activating thyroid...	ORPHA:99819
Iniencephaly	Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Polyhydramnios, Spina bifida, Congeni...	ORPHA:63259
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Abnormal lung lobation, Clinodactyly of the 5th finger, Hypothyroidism, Abnormal ...	OMIM:607872
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Aplasia of the sweat glands, Abnormal...	ORPHA:642
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hypospadias, Small for gestational age, Craniosynostosis, Short stature, Tapered finger, Cryptorc...	OMIM:309590
Hypoplasminogenemia	Cervicitis, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tu...	ORPHA:722
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Abnormal metaphysis morphology, Short stature	ORPHA:1861
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Absence of subcut...	ORPHA:740
Cap Polyposis	Weight loss	ORPHA:160148
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction	ORPHA:137817
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Hydrocephalus, Myelomeningocele, Meningocele, Dermal sinus trac...	OMIM:600145
Thakker-Donnai Syndrome	Communicating hydrocephalus, Congenital diaphragmatic hernia, Rectovaginal fistula, Cervical C2/C...	ORPHA:1780
Gabriele-De Vries Syndrome	Hallux valgus, Small for gestational age, Decreased response to growth hormone stimulation test, ...	ORPHA:506358
Relapsing Polychondritis	Renal insufficiency, Proteinuria, Chondritis of pinna, Atelectasis, Limitation of joint mobility,...	ORPHA:728
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Progressive ventriculomegaly, Unilateral lung agenesis, Ventriculomegaly, Fai...	ORPHA:500150
Toriello-Carey Syndrome	Short stature, Postnatal growth retardation, Cryptorchidism, Wide anterior fontanel, Patent ductu...	ORPHA:3338
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Apnea, Recurrent pneumonia, Polyd...	ORPHA:314655
Mercury Poisoning	Respiratory distress, Dyspnea, Hypokalemia, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Congenital diaphragmatic h...	OMIM:613406
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Unilateral renal agenesis, Short stature, Craniosynostosis	ORPHA:1064
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Hydrops fetalis, Foot polydactyly...	ORPHA:268249
Liposarcoma	Weight loss	ORPHA:69078
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Ves...	ORPHA:2152
Ulbright-Hodes Syndrome	Maternal diabetes, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal external gen...	ORPHA:3404
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Inguinal hernia, Severe short stature, Wide anterior fontanel, Pneumothorax, Recurr...	ORPHA:90349
Fatal Familial Insomnia	Apnea, Ataxia, Weight loss	OMIM:600072
De Sanctis-Cacchione Syndrome	Severe short stature, Bilateral cryptorchidism, Gonadal hypoplasia, Choreoathetosis, Bilateral co...	OMIM:278800
Holoprosencephaly 9	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:610829
Coffin-Siris Syndrome 12	Joint laxity, Elevated hepatic transaminase, Hypospadias, Short stature, Hip subluxation, Cryptor...	OMIM:619325
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Palpebral edema, Camptodactyly of finger, Unilateral renal agenesis, Tapered fing...	ORPHA:261337
Glossopharyngeal Neuralgia	Depression, Weight loss	ORPHA:221098
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Dandy-Walker malformation, Joint laxity, Short stature, T...	ORPHA:480880
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Communicating hydrocephalus, Arachnodactyly, Large for gestational age, Limitation ...	ORPHA:457359
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Facial palsy, Pneumonia, Hypercapnia,...	ORPHA:79138
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Polyhydramnios	OMIM:600559
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture...	OMIM:620232
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Flexion contracture, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Aspira...	ORPHA:99027
Acquired Central Diabetes Insipidus	Pollakisuria, Diabetes insipidus, Weight loss	ORPHA:95626
Aicardi Syndrome	Block vertebrae, Hiatus hernia, Precocious puberty, Small hand, Multiple lipomas, Hip dysplasia, ...	ORPHA:50
Limb Body Wall Complex	Encephalocele, Ventral hernia, Broad hallux, Aplasia/hypoplasia involving bones of the upper limb...	ORPHA:2369
Acrodermatitis Enteropathica	Failure to thrive, Short stature, Weight loss	ORPHA:37
Arboleda-Tham Syndrome	Respiratory distress, Bilateral cryptorchidism, Conjunctivitis, Chronic otitis media, Recurrent a...	OMIM:616268
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Tracheomalacia, Asthma, Small hand, Obesit...	ORPHA:444077
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Neurofibromatosis, Type I	Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valg...	OMIM:162200
Primrose Syndrome	Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den...	OMIM:259050
X-Linked Dystonia-Parkinsonism	Difficulty walking, Shuffling gait, Aspiration pneumonia	ORPHA:53351
Ring Chromosome 7 Syndrome	Hypospadias, Short stature, Prominent crus of helix, Small hand, Genu valgum, Hydrocele testis, H...	ORPHA:1449
Holoprosencephaly 7	Omphalocele, Alobar holoprosencephaly, Hydrocephalus, Absent nasal septal cartilage, Lobar holopr...	OMIM:610828
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Inguinal hernia, Spontaneous pneumothorax, Arachnodactyly, Craniosynost...	OMIM:610168
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Cervical lymphadenopathy, Crusti...	ORPHA:324625
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Sacral dimple, Cryptorchidism, Polydactyly, Camptodactyly, Clinodactyly of the...	OMIM:247200
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Arachnodactyly, Scarring, Hiatus hernia, Cryptorchidism, Generalized joint laxity, ...	OMIM:601776
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Hydrocephalus, Bifid uterus	ORPHA:2736
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short stature, Flared metaphysis, Advanced ossification of carpal bones, Flat aceta...	OMIM:610442
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Short stature, Hypospadias, Tapered finger, Cryptorchidism, Long fingers, 2-3 toe ...	OMIM:616734
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Broad hallux, Pneumonia, Avascular necrosis of the capital femo...	ORPHA:353281
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Holoprosencephaly 14	Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cysts, Holoprosencepha...	OMIM:619895
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal curvature of the vertebral column, Otitis media, Aspiration, Abnormality of the cervical...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal curvature of the vertebral column, Otitis media, Aspiration, Abnormality of the cervical...	ORPHA:353277
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Short stature, Bifid ...	OMIM:303600
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Short stature, Hydrocephalus, Bone cyst, Abnormal tibia morphology, Genu valgum, Granuloma, Hydro...	ORPHA:363700
Microphthalmia, Syndromic 6	Abnormality of the hypothalamus-pituitary axis, Finger syndactyly, Thumb contracture, Small scrot...	OMIM:607932
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Communicating hydrocephalus, Arachnodactyly, Large for gestational age, Ventriculom...	OMIM:617011
Chand Syndrome	Atelectasis, Short fifth metatarsal, Imperforate hymen, Hydroureter	ORPHA:1401
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Limb dystonia, Hemolytic anemia, Elevated circulating creatine kinase concentration, Hydrocephalu...	OMIM:175780
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Coffin-Siris Syndrome	Cryptorchidism, Recurrent upper respiratory tract infections, Short 5th finger, Aspiration pneumo...	ORPHA:1465
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Sturge-Weber Syndrome	Hyperostosis, Hydrocephalus	ORPHA:3205
Glycine Encephalopathy	Lethargy, Hyperglycinemia	ORPHA:407
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Hydrocephalus, Postaxial hand polydactyly, Patent...	OMIM:609192
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Enuresis, Hydromyelia, Occi...	ORPHA:268810
Meester-Loeys Syndrome	Short stature, Joint hypermobility, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly...	OMIM:300989
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Asthma, Adren...	ORPHA:100079
Pallister-Killian Syndrome	Edema of the dorsum of feet, Small scrotum, Congenital hip dislocation, Polyhydramnios, Congenita...	OMIM:601803
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Kyphosis, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia,...	OMIM:619482
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Ab...	OMIM:615067
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Hypospadias, Short stature, Unilatera...	OMIM:308205
Pineoblastoma	Lethargy, Pinealoma	ORPHA:251909
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha...	OMIM:216340
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Adenocarcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Block vertebrae, Ectopic kidney, Partial d...	OMIM:164210

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 Asah1

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 Asah1.

No publications found that use IMPC mice or data for Asah1.

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MGI Allele	Allele Type	Produced
Asah1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

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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