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Gene: Nfe2l2 MGI:108420

Gene Summary

Name:

nuclear factor, erythroid derived 2, like 2

Synonyms:

Nrf2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged thymus	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.53×10^-05
abnormal thymus morphology	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased mean platelet volume	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	1.08×10^-08
increased circulating aspartate transaminase level	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	5.12×10^-05
abnormal tooth morphology	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal ovary morphology	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating phosphate level	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	7.84×10^-05
increased circulating creatinine level	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.34×10^-10
enlarged seminal vesicle	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	5.43×10^-11
enlarged lymph nodes	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased body weight	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	2.82×10^-06
abnormal skin morphology	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating glucose level	Nfe2l2^{em1(IMPC)Ccpcz}	HOM	Early adult	4.85×10^-05

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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.

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Nfe2l2 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 Nfe2l2 (1 diseases)
Human diseases predicted to be associated with Nfe2l2 (3059 diseases)

The table below shows human diseases associated to Nfe2l2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia		Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia	OMIM:617744

The table below shows human diseases predicted to be associated to Nfe2l2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Hepatic failure, Enamel hypoplasia	ORPHA:3196
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Decreased specific pneumococcal antibody level, G...	OMIM:613496
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Neonatal Hemochromatosis	Micrognathia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase...	ORPHA:446
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Autoimmunity, Microscopic hematuria, ...	ORPHA:567544
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:300842
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiecta...	ORPHA:397596
Diffuse Alveolar Hemorrhage	Rheumatoid factor positive, Cough, Decreased circulating complement C4 concentration, Irregular s...	ORPHA:90060
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis...	ORPHA:411593
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:86841
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colit...	ORPHA:3261
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Crackles, Nodular pattern on pulmon...	ORPHA:99931
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Spermatogenic Failure, X-Linked, 5	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 29	Non-obstructive azoospermia, Male infertility, Immotile sperm	OMIM:618091
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo...	ORPHA:67044
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Cerebral atrophy, Reduced haptoglobin level	OMIM:612126
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Pig...	ORPHA:232
Immunodeficiency 24	Decreased circulating IgG level, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Respirato...	OMIM:615897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections...	OMIM:618495
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas...	OMIM:274150
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Rheumatoid factor positive, Lymphadenitis, Hemolytic anemia, Abscess, Perianal abscess, Hepatospl...	OMIM:618935
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Anti-acetylc...	ORPHA:99867
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome...	OMIM:616414
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Lathosterolosis	Elevated hepatic transaminase, Thick upper lip vermilion, Bilobate gallbladder, Increased mean pl...	OMIM:607330
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ...	OMIM:618394
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Pseudohypoaldosteronism Type 2	Hyperkalemia, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608631
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Pallidal degeneration, Decreased LDL cholesterol concentration, Acanthocytosis	OMIM:607236
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ...	OMIM:232800
Spermatogenic Failure 42	Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic...	OMIM:618745
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Hypercholesterolemia, Thrombocytopenia, Splenomegal...	OMIM:210250
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho...	OMIM:603358
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border, Hepatitis	ORPHA:363523
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo...	OMIM:619644
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cerebral atrop...	OMIM:616084
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Decreas...	ORPHA:54057
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Villous atrophy, Failure to th...	OMIM:619510
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Hypocholesterolemia, Increas...	ORPHA:71
Choreoacanthocytosis	Caudate atrophy, Elevated circulating creatine kinase concentration, Acanthocytosis	OMIM:200150
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level	ORPHA:32
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Eczema, ...	ORPHA:98813
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C...	OMIM:618278
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:205950
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ...	ORPHA:91139
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, B-cell lymphoma, Splenomegaly, Recurrent upper res...	OMIM:616005
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr...	ORPHA:90038
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Glyoxalase deficiency, Reduced glutathione synthetase level	OMIM:231900
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Rheumatoid factor positive, Tachypnea, Leukopenia, Increased circulating IgG level, Pus...	OMIM:615934
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect...	ORPHA:79128
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79402
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Abnormality on pulmonar...	ORPHA:133
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Increa...	OMIM:614034
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Autoimmunity, Large for gestational age, Increased circulating free fatt...	ORPHA:293964
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Autoimmunity, Absence of lymp...	ORPHA:277
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Atypical Hemolytic Uremic Syndrome	Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe...	OMIM:615816
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, In...	OMIM:618982
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocy...	OMIM:304790
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme...	OMIM:614380
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia, Global brain atrophy	OMIM:616457
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia	OMIM:266130
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Aspergillosis	Sinusitis, Neutropenia, Cough, Infectious encephalitis, Abnormality of the kidney, Chronic pulmon...	ORPHA:1163
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n...	ORPHA:37042
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr...	ORPHA:79230
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De...	ORPHA:169154
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Abnormal l...	ORPHA:449395
Pseudohypoparathyroidism, Type Ib	Obesity, Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:603233
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia, Pseudohypoparathyroidism	OMIM:203330
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Anemia, Hypocholesterol...	OMIM:610539
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:608709
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Abetalipoproteinemia	Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Myelodysplasia, Dyspnea, Mediastinal lymphadenopathy, Us...	OMIM:614742
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm...	ORPHA:507
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis, Respiratory i...	ORPHA:2111
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 1	Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ...	OMIM:308230
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Micrognathia, Wide mouth, Retrognathia	OMIM:604273
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentra...	ORPHA:14
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:607373
Morbid Obesity And Spermatogenic Failure	Hypertriglyceridemia, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus, Hyper...	OMIM:615703
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega...	OMIM:300635
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypogonadism, Hy...	OMIM:612462
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-posi...	OMIM:269840
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Decre...	OMIM:618913
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Nephropathy, Hemolytic anemia, Hepatomegaly, Mediastinal lympha...	ORPHA:809
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, R...	OMIM:619632
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Pulp calcification, Hyperphosphatemia, Taurodontia, Enamel hypoplasia	OMIM:211900
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase	OMIM:618400
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:614727
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid...	ORPHA:2239
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Brucellosis	Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Leukopenia, Increased...	ORPHA:1304
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Proteinuria, Thrombocytopen...	OMIM:617303
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Preeclampsia	Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati...	ORPHA:275555
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ...	ORPHA:158061
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia	OMIM:609016
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Sca...	ORPHA:101330
Porphyria, Acute Hepatic	Hemolytic anemia	OMIM:612740
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,...	ORPHA:94086
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Boutonneuse Fever	Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:83313
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Abscess, ...	ORPHA:400
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Arthritis, Increa...	ORPHA:37748
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4...	ORPHA:449400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Hypertriglyceridemia, Re...	OMIM:603553
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Hypogonadism, Hy...	OMIM:103580
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology, Hypocalcemia	ORPHA:2238
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep...	OMIM:618999
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Mediastinal lymphadenopathy,...	OMIM:612387
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,...	ORPHA:781
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Micrognathia, Cr...	OMIM:241410
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating creatinine conce...	OMIM:617872
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM...	OMIM:153600
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca...	ORPHA:59303
Hypoparathyroidism, Familial Isolated, 1	Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea...	OMIM:619048
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated...	OMIM:615158
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Hodgkin lymphoma, Polyclonal elevatio...	OMIM:236000
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym...	ORPHA:79087
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,...	OMIM:615160
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Neonatal respiratory distress, Congenital nephr...	OMIM:256300
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm of the oral cavity, Hyperuric...	ORPHA:543
Oculoskeletodental Syndrome	Hypercalcemia, Abnormality of the dentition, Oligodontia, Hypocalcemia, Microdontia, Enamel hypop...	ORPHA:557003
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Lymphaden...	ORPHA:911
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia, Obesity, Abnormal ci...	ORPHA:171706
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Abnorma...	ORPHA:2323
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod...	ORPHA:79126
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Idiopathic Pulmonary Fibrosis	Crackles, Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Pulmonary f...	ORPHA:2032
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Crackles, Abnormal pleura morphology, Portal hypertension, Dyspnea, Nodular regenerative hyperpla...	ORPHA:210136
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative bur...	OMIM:226990
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Autosomal Recessive Spastic Paraplegia Type 70	Nephrotic syndrome, Abnormal pulmonary interstitial morphology	ORPHA:401835
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, B-cell lymphoma, ...	OMIM:102700
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor...	ORPHA:420741
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu...	OMIM:619386
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hepatic failure, Cholelithiasis, Hypertriglyceridemia	OMIM:177000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Bronchiectasis, T lymp...	OMIM:242860
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Restrictive ventilatory defec...	OMIM:619767
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El...	OMIM:615395
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Mulibrey Nanism	Hepatomegaly, Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocc...	OMIM:253250
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Decreased liver function, Cirrhos...	OMIM:613280
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Carious teeth, Hypoplasia of teeth	OMIM:613312
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c...	OMIM:613179
Osteogenesis Imperfecta, Type Xxii	Abnormal circulating calcium concentration, Dentinogenesis imperfecta, Abnormal blood phosphate c...	OMIM:619795
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Glomerulopathy, Hepatomegaly, Lymphadenopathy, Restric...	ORPHA:36412
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cerebellar atrophy, Splenomegaly, Cere...	OMIM:610333
Alport Syndrome	Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi...	ORPHA:63
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, High palate, Glomerulonephritis	ORPHA:2172
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight	ORPHA:314811
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, High palate, Decreased body ...	OMIM:618347
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep...	ORPHA:93552
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal lun...	ORPHA:439232
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Pseudohypoparathyroidism Type 2	Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94090
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Podocyte foot process effac...	OMIM:617575
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Abnormal circulatin...	ORPHA:79277
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Abnormal immunoglobuli...	OMIM:242900
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H...	ORPHA:470
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Elevated circulating uropo...	OMIM:263700
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Hyper...	ORPHA:1667
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I...	ORPHA:3111
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Isolated Growth Hormone Deficiency, Type Ia	Hypoglycemia, Prolonged neonatal jaundice	OMIM:262400
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin...	OMIM:617638
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El...	OMIM:235555
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ...	ORPHA:97280
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea...	OMIM:618459
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Polymyositis	Hepatomegaly, Abnormal renal tubule morphology, Pericarditis, Autoimmunity, Abnormal pulmonary in...	ORPHA:732
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Systemic Sclerosis	Intestinal bleeding, Abnormal small intestine morphology, Barrett esophagus, Abnormality of the k...	ORPHA:90291
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec...	ORPHA:331235
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Patent ductus arteriosus, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Cirrhosis, Increased se...	ORPHA:101028
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Postinfectious Vasculitis	Rheumatoid factor positive, Gastrointestinal inflammation, Bacterial endocarditis, Recurrent stre...	ORPHA:48435
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Micrognathia, Splenomegaly, Leukocytosi...	OMIM:259720
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Gingiva...	OMIM:231200
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral st...	ORPHA:900
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblains, Port...	OMIM:619487
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Pelger-Huet Anomaly	Abnormality of neutrophils, Abnormality of the dentition, Hyposegmentation of neutrophil nuclei, ...	OMIM:169400
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Oral ulcer, Thrombocytopenia	OMIM:616744
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Crigler-Najjar Syndrome Type 1	Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n...	ORPHA:79234
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la...	OMIM:614700
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Lymphatic Filariasis	Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough...	ORPHA:2035
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Pericarditis, Ost...	ORPHA:449280
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Leukopenia, Increased circulating IgG level, Abnormal sali...	ORPHA:2298
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Intermediate Osteopetrosis	Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Hepatosplenomegaly...	ORPHA:210110
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Taurodontism	Taurodontia	OMIM:272700
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Cerebellar atrophy, Elevated circulati...	OMIM:614576
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ...	ORPHA:536
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Honeycomb lung, Pu...	OMIM:616371
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Reduced circulating aldo...	ORPHA:57
Transcobalamin Deficiency	Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti...	ORPHA:859
Edinburgh Malformation Syndrome	U-Shaped upper lip vermilion, Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Pulmonary fibrosis, Cirrhos...	OMIM:614743
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic...	ORPHA:36913
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy...	ORPHA:169090
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta...	OMIM:614376
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre...	ORPHA:47
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, Decreas...	OMIM:618987
Goodpasture Syndrome	Crackles, Nodular pattern on pulmonary HRCT, Tachypnea, Cough, Anti-glomerular basement membrane-...	OMIM:233450
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Esophageal stricture, Leukopenia, Hepatic fibr...	OMIM:613989
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Micrognathia, ...	OMIM:614857
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Micrognathia, Acanthocytosis, Poikilocytosis, Long philtrum	OMIM:618947
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, D...	OMIM:615952
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ...	OMIM:616050
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn...	ORPHA:141152
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Pulmonary fibrosis...	OMIM:616373
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi...	ORPHA:49041
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Spl...	ORPHA:2585
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia	ORPHA:517
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti...	OMIM:606367
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Braddock Syndrome	Neonatal respiratory distress, Unilateral renal agenesis, Pulmonary fibrosis, Pulmonary arterial ...	ORPHA:52047
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss, Chronic noninfectious lymphadenopathy, Adre...	ORPHA:100083
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:611182
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto...	ORPHA:1572
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ...	OMIM:619164
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Pseudohypoparathyroidism Type 1B	Calcinosis, Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pse...	ORPHA:94089
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Agitation, Aggressive behavior	OMIM:617171
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Parathyroid hyperplasia, Hyperphosphatemia, Calvarial osteosclerosis, Hypercalcemia	OMIM:617994
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Abnormality of the lymphatic...	ORPHA:54251
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli...	ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 36	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:617950
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcem...	ORPHA:93325
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Elevated maternal serum alpha-fetoprotein, Oral mucosal blisters, Atrophic scars, Arthrogryposis ...	OMIM:226730
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Patent Ductus Venosus	Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function	OMIM:601466
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Leukocytosis, Hypereosino...	ORPHA:2902
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:617049
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
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
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Lymphoma, Multiple myeloma, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat...	OMIM:301045
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Respiratory insufficiency, Hematu...	ORPHA:375
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Trichohepatoenteric Syndrome 1	Hypospadias, Small for gestational age, Increased mean platelet volume, Splenomegaly, Narrow mout...	OMIM:222470
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Abetalipoproteinemia, Acanthocytosis	ORPHA:157850
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Scarring, Delayed eruption of primary teeth, Flexion contrac...	ORPHA:90322
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h...	ORPHA:26792
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia, Hyperammonemia	ORPHA:35
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore...	ORPHA:276621
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Abnormal repetitive mannerisms, Pica, Aggressive behavior	OMIM:617270
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:136680
Choreoacanthocytosis	Hepatomegaly, Caudate atrophy, Temporomandibular joint crepitus, Elevated circulating aspartate a...	ORPHA:2388
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Small for gestational age, Hyperphosphatemia, Hyp...	OMIM:127000
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Tracheoesophageal fistula, Abnormality of the bladder, Hematuri...	ORPHA:1839
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Small for gestational age, Hypoplasia of the ma...	OMIM:101800
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron...	OMIM:618108
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Phosphoglycerate Dehydrogenase Deficiency	Reduced 3-phosphoglycerate dehydrogenase activity, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Calciphylaxis	Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly...	OMIM:617093
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent resp...	OMIM:620210
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Delayed eruption of permanent teeth	ORPHA:839
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra...	OMIM:614946
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Idiopathic Achalasia	Decreased prealbumin level, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Dyspnea, Respiratory tract infection, Chro...	ORPHA:567546
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Decreased...	ORPHA:33355
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:79235
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin	ORPHA:890
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu...	OMIM:178550
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Frontotemporal...	ORPHA:263501
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Smooth philtrum, Thrombocytopenia, Increased size of the mandible, Increased mean platelet volume	OMIM:300048
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Deep ...	OMIM:606003
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Spleno...	OMIM:170100
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Cerebellar atrophy, Elevated circul...	OMIM:610377
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Omenn Syndrome	Hepatomegaly, Failure to thrive, Pneumonia, Autoimmunity, Eosinophilia, Splenomegaly, Leukocytosi...	ORPHA:39041
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia, Obesity	ORPHA:79445
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth...	ORPHA:77259
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Autoimmuni...	ORPHA:228426
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,...	OMIM:613990
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic...	OMIM:159550
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality	OMIM:237500
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Elevated circu...	ORPHA:2785
Hypophosphatasia, Childhood	Carious teeth, Elevated plasma pyrophosphate, Premature loss of primary teeth	OMIM:241510
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg...	ORPHA:98850
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun...	OMIM:619256
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythro...	ORPHA:169160
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia...	ORPHA:186
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li...	OMIM:246900
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Abnormal pleura morphology, Splenomegaly, Abnorma...	ORPHA:549
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Micrognathia, Hepatic melanin-like lysosomal...	OMIM:208085
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Autoimmunity, Myocarditis, Xerostomia, Abn...	ORPHA:81
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod...	OMIM:619980
Lathosterolosis	Hepatomegaly, Micrognathia, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morp...	ORPHA:46059
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Autoimmunity, Malabsorption, Dyspnea, Xerostomia, Oliguria, Arthritis, Pulmo...	ORPHA:220393
Congenital Disorder Of Glycosylation, Type Iig	Smooth philtrum, Thin upper lip vermilion, Hypospadias, Failure to thrive in infancy, Micrognathi...	OMIM:611209
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha...	ORPHA:2394
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Hip contracture, Micrognathia, Microvesicular hepatic steatosis, Narrow mouth, Flex...	OMIM:300868
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Patent ductus arteriosus, Elevated circulating creatinine concentration, Cholestasi...	OMIM:608104
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine concentration, Lym...	ORPHA:29073
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat...	ORPHA:199296
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Recurrent respiratory infections, Chronic decreased circulating ...	OMIM:613495
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos...	ORPHA:90280
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome...	ORPHA:699
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, High palate, Pulmonary fibrosis, Micropenis, Decreased testicular size	ORPHA:457240
Pseudohypoparathyroidism Type 1C	Calcinosis, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to grow...	ORPHA:79444
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo...	OMIM:607426
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Decreased serum iron, Flexion contracture, Downturned corners of mouth, Th...	ORPHA:391372
Hepatoerythropoietic Porphyria	Hemolytic anemia, Abnormal circulating enzyme concentration or activity, Erythrodontia, Abnormal ...	ORPHA:95159
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Takenouchi-Kosaki Syndrome	Smooth philtrum, Thin upper lip vermilion, Hypospadias, Increased mean platelet volume, Cryptorch...	OMIM:616737
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ...	OMIM:261680
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat...	ORPHA:168577
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Intellectual Developmental Disorder With Autism And Speech Delay	Abnormal repetitive mannerisms	OMIM:606053
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Interstitial Lung And Liver Disease	Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Abnorm...	OMIM:615486
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608636
Immunodeficiency 46	Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Immunodeficiency 56	Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis...	OMIM:615207
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce...	OMIM:608233
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Graft Versus Host Disease	Elevated hepatic transaminase, Trismus, Jaundice, Oral ulcer, Chronic hepatitis, Hepatosplenomega...	ORPHA:39812
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in...	ORPHA:505248
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Failu...	ORPHA:289504
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:255120
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le...	ORPHA:3392
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Patent ductus arteriosus, Anemia, Increased m...	OMIM:617021
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Immunodeficiency 61	Recurrent respiratory infections, Decreased circulating IgG4 level, Malabsorption, Obesity, Agamm...	OMIM:300310
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Anti-acetylcholine receptor antibody positivity, Pulmonary fibrosis, Bronchiolitis, ...	ORPHA:254361
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Cerebral atrophy,...	OMIM:615512
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Elevated circulating creatine ki...	ORPHA:79333
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein...	ORPHA:29072
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia, Jaundice	OMIM:237450
Senior-Boichis Syndrome	Elevated hepatic transaminase, Diffuse cerebral atrophy, Portal hypertension, Malformation of the...	ORPHA:84081
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach...	OMIM:263000
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Cerebral atrophy, Increased mean corp...	OMIM:613839
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227982
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Jaundice, Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia, Jaundice	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea	OMIM:615767
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Thin ...	OMIM:277380
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,...	ORPHA:381
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Insulin re...	OMIM:615980
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Familial Benign Copper Deficiency	Deep philtrum, Decreased circulating copper concentration	ORPHA:1551
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Recurrent upper res...	OMIM:618944
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures	OMIM:277440
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Sinusitis, Splenomegaly, Lymph...	OMIM:617591
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia	OMIM:231000
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Anemia	ORPHA:1802
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Periodontitis, Reduction of neutrophil motility	OMIM:266265
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ...	OMIM:618969
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Howell-Jolly bodies, Abnormality of the kidney, D...	ORPHA:85443
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Crigler-Najjar Syndrome, Type I	Jaundice, Unconjugated hyperbilirubinemia	OMIM:218800
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Agamma...	ORPHA:33110
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Oral ulcer, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:229050
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures	OMIM:264700
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasis, B...	OMIM:615518
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot...	OMIM:300752
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H...	ORPHA:79237
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe...	ORPHA:340
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Premature loss of teeth, ...	OMIM:239000
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Wt Limb-Blood Syndrome	Pancytopenia, Micrognathia, Retrognathia, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Hepatomegaly, Proteinuria, Failure to thrive in infancy, Spleno...	ORPHA:834
Teeth Present At Birth	Natal tooth	OMIM:187050
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurren...	OMIM:619752
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Limited Cutaneous Systemic Sclerosis	Pulmonary arterial hypertension, Autoimmunity, Pulmonary fibrosis	ORPHA:220402
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent...	OMIM:618805
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Reduced forced vital cap...	ORPHA:1303
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil...	ORPHA:723
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enam...	ORPHA:1133
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Failure to thrive	OMIM:230350
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Short ...	OMIM:185070
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo...	OMIM:242700
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp...	ORPHA:2089
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interst...	OMIM:127550
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Pseudohypoparathyroidism Type 1A	Calcinosis, Delayed eruption of teeth, Hypergonadotropic hypogonadism, Decreased response to grow...	ORPHA:79443
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Restrictive ventilatory defect, Erysipelas, Pulmonary fibrosis, Hepatomegaly	OMIM:615704
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:613404
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Abnormal sperm morphology, Decreased testicular size...	ORPHA:320391
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Nephr...	OMIM:215250
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy	ORPHA:99976
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Aspiration pneumonia, Cough, Nephropathy, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis...	ORPHA:1018
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
8P11.2 Deletion Syndrome	Hemolytic anemia, Micrognathia, Splenomegaly, Patent ductus arteriosus, Spherocytosis, High palate	ORPHA:251066
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarc...	ORPHA:171
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Tubulointerstitial nephritis, Cough, Glomerulopathy, Respiratory insufficien...	ORPHA:183
Propionic Acidemia	Hepatomegaly, Pancytopenia, Cerebral atrophy, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni...	OMIM:606054
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Decreased liver function	ORPHA:67048
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropen...	OMIM:232220
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr...	OMIM:614921
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
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
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Lymphoma, Bronchiectasis, Lymphadenopat...	OMIM:619126
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Cerebellar atrophy, Hyperglutaminemia, Hyperprolinemia, Decreased ...	OMIM:616299
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Failure to t...	OMIM:612852
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre...	OMIM:174050
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Dyspnea, Abnorm...	ORPHA:35687
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac...	ORPHA:829
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtratio...	ORPHA:85450
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi...	ORPHA:763
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Circulating immu...	ORPHA:91138
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Hypoxemia, Increased circulating IgG le...	ORPHA:284227
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ...	ORPHA:83471
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Functional abnormality of the bladder, Decreased circulating Ig...	ORPHA:2571
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron	OMIM:212050
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Eosinophilia, Autoimmunity, Cholangitis, Increase...	ORPHA:449432
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt...	ORPHA:263455
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Abnormality of the pancreas	ORPHA:2924
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester...	ORPHA:650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial n...	ORPHA:797
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Microretrognathia, Splenomegaly, Patent ductus arter...	OMIM:251290
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Specific Granule Deficiency 2	Absent neutrophil specific granules, Conical tooth, Anemia, Neutropenia, Tooth malposition, Throm...	OMIM:617475
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr...	OMIM:232240
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Atelis Syndrome 1	Carious teeth, Anemia, Leukopenia, High palate, Long philtrum, Thrombocytopenia	OMIM:620184
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr...	OMIM:618165
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Weigh...	ORPHA:330001
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto...	OMIM:617099
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea...	ORPHA:79084
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Abnormality of dental color	OMIM:163200
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia	ORPHA:314802
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Asci...	OMIM:276700
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Skin rash, Autoimmunity, Verrucae, Recurrent aphthous stomatitis, Otitis media...	ORPHA:275
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Neurodegeneration With Brain Iron Accumulation 1	Cerebral degeneration, Neurodegeneration, Global brain atrophy, Acanthocytosis	OMIM:234200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Cryptorchidism, Anemia, Squamous cell carcinoma of the skin,...	OMIM:620365
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm...	OMIM:209920
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit...	OMIM:618886
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Aminoaciduria, Hypophosphat...	OMIM:239200
Scarf Syndrome	Inguinal hernia, Hepatocellular adenoma, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypo...	ORPHA:3134
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug...	ORPHA:3260
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Supernumerary tooth, Patent ductus arteriosus, Thin vermilion border, Elliptocytosis, Thick vermi...	ORPHA:86818
Combined Saposin Deficiency	Splenomegaly, Neuronal loss in central nervous system, Hepatomegaly	OMIM:611721
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Fumarase Deficiency	Decreased fumarate hydratase activity, Intrahepatic cholestasis, Cerebral atrophy, High palate, H...	OMIM:606812
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia	OMIM:616483
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures	ORPHA:289157
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Hepatitis, Erythrode...	ORPHA:139402
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperparathyroidism, Hyperkalemia, Anemia	OMIM:620366
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Mandibular prognathia, Foot joint contracture, Scarr...	ORPHA:90321
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f...	ORPHA:280356
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Leukopenia, Conjunctivitis, Hypos...	OMIM:305000
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Prominence of the premaxilla, Patent ductus arteriosus, Elevated c...	OMIM:614886
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Bone marrow hypocellularity, Pulmonary fibrosis	OMIM:618674
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Narrow mouth, Gingival overg...	OMIM:259775
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia...	ORPHA:209905
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Hypoglycemia, Anti-thyroid peroxidase antibody positivity, Recurrent pne...	OMIM:615577
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis, Obesity	OMIM:620195
Syndromic Diarrhea	Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus...	ORPHA:84064
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ...	OMIM:619774
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Increased mea...	ORPHA:487796
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Aicardi-Goutieres Syndrome 7	Cerebellar atrophy, Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Sp...	OMIM:615846
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Dental crowding, Lipoatrophy,...	ORPHA:2457
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Episodic h...	ORPHA:251004
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Failure to thrive, Hypoglycemia	OMIM:610090
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Bloom Syndrome	Bronchitis, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Stomach cancer, Decreased ci...	ORPHA:125
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Hyperammonem...	ORPHA:292
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251110
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
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
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, Lymphadenop...	ORPHA:86893
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption	ORPHA:225
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype...	OMIM:617156
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618709
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia	OMIM:618107
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga...	ORPHA:30391
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi...	OMIM:613670
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth, Ascites, Anemia	ORPHA:1046
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Glycogen Storage Disease Ixd	Increased muscle glycogen content, Hypoglycemia, Elevated circulating creatine kinase concentrati...	OMIM:300559
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Hereditary Methemoglobinemia	Cerebellar atrophy, Temporal cortical atrophy, Lip discoloration, Frontal cortical atrophy, Methe...	ORPHA:621
Hermansky-Pudlak Syndrome	Renal insufficiency, Epistaxis, Malabsorption, Dyspnea, Weight loss, Basal cell carcinoma, Squamo...	ORPHA:79430
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Systemic Capillary Leak Syndrome	Renal insufficiency, Abnormal renal tubule morphology, Pulmonary edema, Pericarditis, Myocarditis...	ORPHA:188
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In...	ORPHA:465508
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Cryoglobulinemia, Epistaxis, Abnormality of...	ORPHA:33226
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Immunodeficiency 22	Pericarditis, Failure to thrive, Abscess, Autoimmunity, Recurrent upper respiratory tract infecti...	OMIM:615758
Lassa Fever	Dyspnea, Jaundice, Oliguria, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa...	OMIM:612714
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,...	ORPHA:545
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Thrombocytopenia, Splenomegaly, Osteoarth...	ORPHA:355
Immunodeficiency 19	Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis...	OMIM:615617
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Oropharyngeal squamous cell carcinoma, Functional abnormality of the bladder, T ...	ORPHA:391487
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia	OMIM:618958
Sporadic Creutzfeldt-Jakob Disease	Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis	ORPHA:204
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
Moynahan Syndrome	Cachexia	ORPHA:2574
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis	OMIM:613877
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Respiratory insufficiency, Lymphadenopathy, Weig...	ORPHA:391
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinusitis, Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibod...	OMIM:616576
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Asymptomatic hype...	ORPHA:35878
Nephroblastoma	Weight loss, Hematuria, Neoplasm of the lung, Lymphadenopathy, Neoplasm of the liver, Neoplasm, N...	ORPHA:654
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Cleft palate, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Alg8-Cdg	Elevated hepatic transaminase, Hyponatremia, Anemia, Macroglossia, Ascites, Cerebral cortical atr...	ORPHA:79325
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia	OMIM:262700
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Failure to thrive in infancy, Autoimmunity, Portal hypertension, Hypersplenism, Spl...	OMIM:613385
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi...	ORPHA:10
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase...	ORPHA:99826
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:246400
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Aceruloplasminemia	Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Recurrent hand flapping, Abnormal repetitive mannerisms, Dysphagia	OMIM:617862
Myasthenia Gravis	Hemolytic anemia, Abnormal thymus morphology, Hepatitis, Pure red cell aplasia	ORPHA:589
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Oral ulcer, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv...	OMIM:620321
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Arthritis, Increased circulating IgM level,...	ORPHA:448237
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Hepatosplenomegaly, Lympha...	OMIM:615122
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large...	OMIM:616026
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD...	OMIM:619846
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas	OMIM:134610
Hyperprolinemia, Type I	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:239500
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif...	OMIM:241600
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Autoimmunity, Hyperkalemia, Hepatitis, Weight loss, Hy...	ORPHA:199299
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resis...	OMIM:262190
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Neuronal loss in central nervous system, Cerebral cortical atrophy, Astrocytosis	OMIM:600795
Spondyloenchondrodysplasia	Enchondroma, Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Autoimmunity, Pneumonia, Aut...	ORPHA:1855
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Splenomegaly, Jaundice, Biliary cirrhosi...	OMIM:613471
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure	ORPHA:156
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Autoimmunity, Gas...	ORPHA:221
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Perianal abscess, Cervical lymp...	ORPHA:2686
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic kidney disease...	OMIM:613845
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Dyspnea, Asthma, Wheezing, Leukocytosis, Bronchiectasis, Hilar lymph node...	OMIM:620233
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine concentration, Agon...	OMIM:154230
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi...	ORPHA:486
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leukopenia, Neu...	ORPHA:811
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl...	ORPHA:1979
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Elevated circulating C-reactive protein concentration, Microcytic anemia, ...	OMIM:619750
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Decreased ...	OMIM:223900
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Small for gestational age, Unilater...	ORPHA:2260
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati...	ORPHA:99901
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Pr...	OMIM:610965
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:245400
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ...	OMIM:619603
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder, Small for gestational age	OMIM:300076
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Persist...	OMIM:612561
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia	OMIM:610798
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Thin upper lip vermilion, Patent ductus arteriosus, Cleft palate, Anemia, Sho...	ORPHA:163979
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Hepatomegaly, Elevated hepatic transam...	OMIM:260400
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism	OMIM:619150
Liver Disease, Severe Congenital	Micrognathia, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ...	OMIM:619991
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra...	ORPHA:79096
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Epistaxis, Restrictive ventilatory defect, Inflammation of the large intesti...	OMIM:203300
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, A...	ORPHA:42642
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:608799
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Sterile pyuria, Renal interstitial edema, Tubulointerstitial nephritis, Aminoa...	ORPHA:91500
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Mediastinal lymphadenopathy, Lymphadenop...	ORPHA:83469
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Recurrent aphthous stomatitis, Hypocalcemia, Stomatitis, Enamel hy...	OMIM:212750
Inherited Creutzfeldt-Jakob Disease	Astrocytosis, Central nervous system degeneration, Senile plaques, Neuronal loss in central nervo...	ORPHA:282166
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Nephrolithiasis, Gout, Focal segmental glome...	OMIM:232200
Overlap Myositis	Autoimmunity, Abnormality of the kidney, Antinuclear antibody positivity, Abnormal pulmonary inte...	ORPHA:206572
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Astrocytosis, Wide mouth, Open mouth, Thick upper lip vermilion	OMIM:611087
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Combined Oxidative Phosphorylation Deficiency 21	Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k...	OMIM:201475
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide...	OMIM:615238
Shigellosis	Hyponatremia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, ...	ORPHA:810
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Micrognathia, Splenomegaly, Cerebral atrophy, Thin vermilion border	OMIM:608540
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Pancreatitis, Hyperammonemia	OMIM:620137
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Abnormal...	ORPHA:77261
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia, Abnormality of the dentition	ORPHA:3363
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ...	OMIM:608836
Renal Hypoplasia, Bilateral	Neonatal respiratory distress, Failure to thrive, Proteinuria, Small for gestational age, Cryptor...	ORPHA:97362
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Dyspnea, Lymphadenitis, Abnormal lung ...	ORPHA:449427
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Hemochromatosis, Type 1	Elevated hepatic transaminase, Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Imp...	OMIM:235200
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Splenomegaly,...	OMIM:607625
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Tracheobronchial leio...	OMIM:308940
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor...	OMIM:620250
Microlissencephaly	Pneumonia	ORPHA:1083
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Elevated circulating aspartate aminotransferase concentration, Intrahepatic c...	OMIM:619685
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Neonatal hypoglycemia, Decreased body weight	ORPHA:231140
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep...	OMIM:264470
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251100
2P21 Microdeletion Syndrome	Failure to thrive, Hypoglycemia, Hypocalcemia	ORPHA:163693
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Anisopoikilocytosis, Anemia	OMIM:615789
Tufted Angioma	Anemia, Hemangioma of the lip, Thrombocytopenia	ORPHA:1063
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Elevated t...	ORPHA:98848
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, ...	OMIM:253000
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int...	OMIM:243300
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Gingival bleeding, Neutrope...	ORPHA:88
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Carious teeth, Narrow mouth, Flexion contracture, Atypical scarring of skin...	ORPHA:89842
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Malabsorption, Asthma, Incre...	ORPHA:634
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymp...	ORPHA:90362
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol...	ORPHA:85445
Hypercalcemia, Infantile, 2	Failure to thrive, Hypercalcemia, Hypophosphatemia	OMIM:616963
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, E...	OMIM:618329
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased circulating free fat...	ORPHA:79644
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Bone Marrow Failure Syndrome 3	Micrognathia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Amelogenesis imperfe...	OMIM:617052
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia	OMIM:210200
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr...	OMIM:194080
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Elevated circulating creatinine ...	OMIM:619468
Lowry-Maclean Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, Abnorm...	ORPHA:2409
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology	ORPHA:2180
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
N-Acetylaspartate Deficiency	Abnormal repetitive mannerisms, Self-mutilation	OMIM:614063
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia...	OMIM:615453
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Crimean-Congo Hemorrhagic Fever	Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, He...	ORPHA:99827
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Astrocytosis	ORPHA:225154
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pi...	ORPHA:97289
Developmental And Epileptic Encephalopathy 58	Abnormal repetitive mannerisms	OMIM:617830
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Cari...	OMIM:311200
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure, Cerebel...	OMIM:616719
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:435934
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Myocarditis, Insulin ...	ORPHA:3452
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due...	OMIM:220110
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, P...	OMIM:251000
Yellow Fever	Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Elevated cir...	ORPHA:99829
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Hepatomega...	OMIM:613610
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Lymphocy...	ORPHA:514
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Mehmo Syndrome	Small for gestational age, Obesity, Hypoglycemia	OMIM:300148
Isolated Anencephaly	Cleft lip, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Xerostomia, Nephrolithiasi...	OMIM:617321
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrha...	ORPHA:90068
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal cerebral atrophy, Astrocytosis	ORPHA:275864
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Increased circulating interferon-gamma concentration	OMIM:612952
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b...	OMIM:619611
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleukin 6 concentrati...	ORPHA:160
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit...	OMIM:224230
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu...	ORPHA:178320
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Increased serum zinc	OMIM:601979
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive ...	ORPHA:90051
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating aspartate amino...	OMIM:620300
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,...	OMIM:618282
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Decreased circulating IgG level, Severe B lympho...	OMIM:620005
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Micrognathia, Conjug...	OMIM:614887
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, ...	OMIM:253010
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Decreased circulating antibody level...	ORPHA:90045
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Cachexia, Abnormal re...	ORPHA:60033
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cerebellar atrophy, Elevated circulating aspartate...	OMIM:614866
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocy...	ORPHA:520
Braddock-Carey Syndrome 2	Pierre-Robin sequence, Cleft palate, Wide mouth, Retrognathia, Thrombocytopenia	OMIM:619981
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Recurrent bronchitis,...	OMIM:251260
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Retrognathia...	OMIM:608013
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou...	ORPHA:99745
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Enamel hypomineralization, ...	OMIM:307800
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia	OMIM:619046
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pust...	ORPHA:29207
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cerebellar atrophy, Microvesi...	OMIM:203700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Codas Syndrome	Delayed eruption of teeth, Extrahepatic biliary duct atresia, Abnormal dental morphology, Abnorma...	ORPHA:1458
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Dengue Fever	Hepatomegaly, Leukopenia, Gingival bleeding, Ascites, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Nep...	ORPHA:662
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cerebral atrophy, Frontotemporal cereb...	OMIM:613489
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Tented upper lip...	OMIM:615673
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus...	OMIM:300946
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis	OMIM:617175
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, P...	OMIM:619381
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619470
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Lymphoproliferative disorder, Abnormality of the spleen, ...	ORPHA:33276
Dent Disease 2	Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, R...	ORPHA:436271
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Hepatic failure, Thrombocytopenia	ORPHA:49566
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormality of the kidney, Eosinophilia, Cholangitis, Antinuclear antibody positivity,...	ORPHA:449563
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc...	ORPHA:314478
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Amme Complex	Thin upper lip vermilion, Elliptocytosis	OMIM:300194
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Cirr...	ORPHA:528
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,...	ORPHA:562
Renpenning Syndrome	Diabetes mellitus, Cachexia	ORPHA:3242
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, High palate...	OMIM:619743
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Renal insu...	OMIM:614748
Mcdonough Syndrome	Cachexia	ORPHA:2471
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati...	OMIM:619355
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis	OMIM:616239
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Oral leukoplakia, Cerebral co...	ORPHA:3322
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Elevated circulating creatinine concentration	OMIM:616733
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diffuse cerebral atrophy, Increased circulating ferritin concentration, Hypochromic microcytic an...	ORPHA:3240
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Sinusitis, Decreased circulating IgG2 level, ...	OMIM:208900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Enterocolitis, Ulcerative colitis	OMIM:614878
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Dyspnea, Nonproductive cough, Ast...	ORPHA:97287
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Rift Valley Fever	Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Anemia, Increased circulating IgG level, Incr...	ORPHA:319251
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal...	ORPHA:30
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Autoimmunity, Dyspnea, Weight loss, Restrictive ventilatory de...	ORPHA:93672
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Macroglossia, Lymphadenopathy, Glossitis	ORPHA:2221
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Eczema, Keratitis, Increased circulating IgE leve...	OMIM:618523
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Gingival bleedin...	ORPHA:274
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia	OMIM:201450
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Cerebral atrophy, ...	OMIM:613658
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Familial Isolated Hyperparathyroidism	Parathyroid adenoma, Primary hyperparathyroidism, Hypercalcemia, Hypophosphatemia	ORPHA:99879
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Abnormal circulating interl...	ORPHA:69665
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Micrognathia, Cryptorchidism, Retrognathia, High palate, Malar fl...	ORPHA:98791
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Mediastinal lymphadenopathy, Thymoma, Decreased circula...	ORPHA:169105
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Abnormality of serum cytokine level, Microangiopathic hemolytic...	ORPHA:464343
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulati...	ORPHA:26791
Temtamy Syndrome	Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia	OMIM:218340
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Failure to thrive	OMIM:614702
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res...	OMIM:615381
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Ganglioneuroblastoma, Elevated urinary dopa...	OMIM:256700
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Hypoglycemia	ORPHA:231147
Gitelman Syndrome	Respiratory distress, Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urin...	ORPHA:358
Idiopathic Congenital Hypothyroidism	Macroglossia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice	ORPHA:95717
Neonatal Alloimmune Neutropenia	Pneumonia, Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:464370
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Hiatus ...	OMIM:251300
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart...	OMIM:256810
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Ascites, Thrombocytopenia	OMIM:617397
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Micrognathia	OMIM:188025
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea...	ORPHA:363400
Cranioectodermal Dysplasia 1	Hepatomegaly, Inguinal hernia, Malformation of the hepatic ductal plate, High, narrow palate, Hep...	OMIM:218330
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased nasal nitric oxide,...	OMIM:612444
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma...	ORPHA:364028
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:301056
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Cholelithiasis, Enamel hypoplasia, Chronic active hepatitis	OMIM:240300
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft palate, Hematuria, Nephrotic syndrome	OMIM:161200
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Medu...	OMIM:143880
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia	ORPHA:5
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia	ORPHA:2930
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Micronodular cirrhosis...	OMIM:301072
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function	OMIM:618835
Christianson Syndrome	Cachexia	ORPHA:85278
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Hypocalcemia, Hypocalcemic tetany, Calvarial osteosclerosis, Hypocalcemic seizures	ORPHA:93324
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali...	ORPHA:2552
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased liver function	OMIM:618839
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Smooth philtru...	OMIM:277400
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co...	ORPHA:391408
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:605479
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Carious teeth, Splenomegaly, Astrocytosis, Brain atr...	ORPHA:90324
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Patent ductus arteriosus, Persistence of hemoglobi...	OMIM:619769
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:617044
B4Galt1-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal...	ORPHA:79332
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Melas	Proteinuria, Intestinal pseudo-obstruction, Nephropathy, Focal segmental glomerulosclerosis, Prox...	ORPHA:550
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu...	OMIM:147060
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Simplified gyral pattern, Bronchiectasis, Hyperammonemia...	OMIM:618253
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Thrombocytopenia,...	ORPHA:906
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Dys...	ORPHA:284
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cerebral atrophy, Prolonged neonatal j...	OMIM:225750
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Cerebral atrophy, Anemia, Thrombocytopenia	OMIM:230900
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Abnormality of the dentition, Hypophosphatemia	OMIM:193100
Developmental And Epileptic Encephalopathy 30	Abnormal repetitive mannerisms	OMIM:616341
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617820
Immunodeficiency 9	Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Attrv30M Amyloidosis	Nephropathy, Weight loss, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ...	ORPHA:90117
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah...	OMIM:227810
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati...	ORPHA:330015
Flynn-Aird Syndrome	Type II diabetes mellitus, Cachexia	ORPHA:2047
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia	OMIM:615026
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Hermansky-Pudlak Syndrome 4	Restrictive ventilatory defect, Absent platelet dense granules, Epistaxis, Pulmonary fibrosis	OMIM:614073
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc...	OMIM:618775
Myotonic Dystrophy 2	Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet...	OMIM:602668
Dubin-Johnson Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ...	ORPHA:234
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Failure to thrive	ORPHA:2278
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis	OMIM:260570
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Anemia	ORPHA:2668
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Krabbe Disease	Neurodegeneration, Reduced galactocerebrosidase activity, Diffuse cerebral atrophy, Autoimmune th...	OMIM:245200
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa...	ORPHA:79085
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu...	ORPHA:2038
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm...	OMIM:216550
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Antinuclear antibody positivity, Thrombocyt...	ORPHA:50918
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Abnorm...	ORPHA:666
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Recurrent urinary tract infections, Psoriasiform dermatitis, Decre...	ORPHA:221139
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Proteinuria, Skin rash, Malabsorption, Orchitis, Splenomega...	ORPHA:342
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio...	OMIM:231680
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hyperalaninemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:614739
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Premature loss of primary teeth, Abnormality of the dentition, Hypocalcemia,...	ORPHA:93160
Laron Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypoglycemia, Micrognathia, Truncal obesity, Toot...	ORPHA:633
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Spondylometaphyseal Dysplasia, Axial	Reduced sperm motility	OMIM:602271
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Micrognathia, Persistence of hemoglobin F, Everted lower lip vermilion,...	OMIM:617101
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Ciliary Dyskinesia, Primary, 46	Reduced sperm motility	OMIM:619436
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r...	ORPHA:435660
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Aganglionic megacolon, Chronic kidney dis...	ORPHA:261222
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Tented upper lip vermilion, Pineal cyst, Iron deficiency...	OMIM:618885
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Autoimmunity, Insulin resistance, Insulin...	ORPHA:79086
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Ogden Syndrome	Cardiomegaly, Micrognathia, Microvesicular hepatic steatosis, Deep philtrum, Iron deficiency anem...	OMIM:300855
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Endocardial Fibroelastosis	Hypoglycemia	ORPHA:2022
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Hypophosphatemia, Hypophosphatemic r...	OMIM:612089
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja...	ORPHA:444490
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:609425
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy...	ORPHA:159
Netherton Syndrome	Recurrent respiratory infections, Failure to thrive, Villous atrophy, Recurrent skin infections, ...	OMIM:256500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Aplasia of the bladder, ...	ORPHA:158684
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop...	ORPHA:2072
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Thrombocytopenia, Wide mouth, Long philtrum, Open mouth, Smooth philtru...	OMIM:616638
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Abnormality of the dentition,...	ORPHA:1775
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Immunodeficiency 54	Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Failure to thrive, Reduced nat...	OMIM:609981
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Alagille Syndrome 1	Duplicated collecting system, Hepatocellular carcinoma, Multiple small medullary renal cysts, Sta...	OMIM:118450
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Elevated circul...	ORPHA:542323
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F...	ORPHA:264675
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Scarf Syndrome	Umbilical hernia, Inguinal hernia, Enamel hypoplasia, Long philtrum	OMIM:312830
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Mirage Syndrome	Hyponatremia, Patent ductus arteriosus, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lym...	OMIM:617053
Fibrous Dysplasia Of Bone	Diabetes mellitus, Precocious puberty in females, Hypercalcemia, Elevated circulating growth horm...	ORPHA:249
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv...	OMIM:222700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulat...	OMIM:615688
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I...	OMIM:301074
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepatic steatosis, Decr...	ORPHA:70472
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Cystinosis	Hypokalemia, Aminoaciduria, Hypophosphatemia, Type I diabetes mellitus, Failure to thrive	ORPHA:213
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst...	OMIM:618718
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Ascites, Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Join...	OMIM:235510
Fanconi Anemia, Complementation Group F	Failure to thrive, Pneumonia, Thrombocytopenia, Cryptorchidism, Renal hypoplasia, Leukopenia, Mic...	OMIM:603467
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower respiratory ...	OMIM:615966
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Hepatomegaly, Delayed eruption of teeth, Dental crowding, Splenomegaly, Macro...	OMIM:616354
Anaplastic Thyroid Carcinoma	Respiratory distress, Neoplasm of the skeletal system, Dyspnea, Upper airway obstruction, Tracheo...	ORPHA:142
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr...	ORPHA:319218
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro...	ORPHA:90041
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Diffuse leiomyomatosi...	OMIM:301050
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Rheumatoid Arthritis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Weight loss, A...	OMIM:180300
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leukopenia, ...	ORPHA:508542
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Hypoalbuminemia, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia	ORPHA:440713
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Myocarditis, Autoimmune antibody positivity, Abnormal pulmonary interstitial...	ORPHA:206569
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul...	ORPHA:199241
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Pericarditis, Failure to thrive, Proteinuria, Villous atrophy, Renal cyst, Nephroti...	OMIM:212065
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, Deep philtrum, Non-midline cleft lip, Clef...	ORPHA:647
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Hypoammonemia, Micrognathia, Deep ph...	ORPHA:534
Copper Deficiency, Familial Benign	Decreased circulating copper concentration	OMIM:121270
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta, Hypomagnesemia	OMIM:248190
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria,...	OMIM:619525
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, ...	ORPHA:90033
Bullous Pemphigoid	Diabetes mellitus, Psoriasiform dermatitis, Eczema, Autoimmunity, Weight loss	ORPHA:703
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Increased circulating IgE level, Failure to thrive, Recurrent bronc...	OMIM:616069
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Cleft...	ORPHA:33001
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Stt3B-Cdg	Cerebellar atrophy, Thrombocytopenia	ORPHA:370924
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Glutaric Acidemia I	Hepatomegaly, Hypoglycemia, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulati...	OMIM:231670
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice	ORPHA:95715
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Thrombocytopenia	OMIM:615597
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Retrognathia, Hepatosplenomegaly, Decreased circulating antibody leve...	ORPHA:79330
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:608049
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Organic aciduria, Thr...	ORPHA:79242
Muckle-Wells Syndrome	Hepatomegaly, Splenomegaly, Anemia, Recurrent aphthous stomatitis, Abnormal palate morphology	ORPHA:575
Diamond-Blackfan Anemia 10	Macrocytic anemia, Micrognathia, Patent ductus arteriosus, Reticulocytopenia, Cleft palate, Stero...	OMIM:613309
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Hepato...	ORPHA:75249
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Asthma...	OMIM:619377
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Hepatic steatosis, Obesity	OMIM:615996
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, High, narrow palate, Weight loss, Restrictive v...	ORPHA:98897
Ciliary Dyskinesia, Primary, 12	Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia...	OMIM:612650
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Lymphoproliferative disorder, Recurrent p...	OMIM:614868
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Alpha-Mannosidosis	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Open bite, Splenomegaly, Dental m...	ORPHA:61
Hypophosphatasia, Adult	Carious teeth, Premature loss of permanent teeth, Chondrocalcinosis, Premature loss of primary teeth	OMIM:146300
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypercalcemia, Micrognathia, Hypophosphatemia, Tooth malposition	OMIM:156400
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Familial Thyroid Dyshormonogenesis	Macroglossia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged ne...	ORPHA:95716
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive	OMIM:236795
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopat...	ORPHA:2331
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Malar prominence, Abnormal reticulocyte morphology, Abnormal dental morphology, Micrognathia	ORPHA:2522
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia	OMIM:613886
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Intestinal bleeding, Bone marrow hypocellularity, Pulmonary fibrosis, Oral leukoplakia, T...	OMIM:612199
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumotho...	ORPHA:36238
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis	ORPHA:300536
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne...	ORPHA:1302
Degcags Syndrome	Smooth philtrum, Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Protruding tongue, Mi...	OMIM:619488
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Macroglossia	ORPHA:309288
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Lig4 Syndrome	Hypoplasia of penis, Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Hyperammonemia, Hypero...	ORPHA:415
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia	OMIM:616111
Malakoplakia	Inflammatory abnormality of the skin, Neoplasm of the colon, Proteinuria, Dysuria, Skin rash, Fol...	ORPHA:556
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Elevated urinary formiminoglutamic acid level, Hypersegmentation of neutrophil nuc...	OMIM:229100
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina...	ORPHA:247768
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Japanese Encephalitis	Respiratory distress, Neutrophilia, Pulmonary edema, Increased circulating IgM level, Respiratory...	ORPHA:79139
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Disinhibition, Dysphagia	OMIM:612069
Cog8-Cdg	Elevated hepatic transaminase, Failure to thrive, Hypoglycemia	ORPHA:95428
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Anemia, Thin vermilion border, D...	OMIM:620370
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Long philtrum, Thrombocytopenia	OMIM:617710
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ...	ORPHA:73272
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl...	ORPHA:31150
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Elevated urinary norepinephrine level, Elevated urinary dopamine ...	ORPHA:94080
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Wolfram Syndrome 1	Sideroblastic anemia, Cerebral atrophy, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Impaired glucose tolerance, Maturity-onset diabetes of the young,...	OMIM:137920
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Infertility, Reduced sperm motility	OMIM:615500
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Gingival overgrowth, Cer...	OMIM:230600
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Hepatomegaly	OMIM:228000
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Auto...	ORPHA:1959
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Hepatomegaly, Mandibular prognathia, Corpus callosum atrophy, Splenomegaly, V...	OMIM:248500
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Eczema, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hy...	ORPHA:352490
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperuricemia, Hyperammonemia	OMIM:246450
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Patent ductus arteriosus, Thi...	ORPHA:293939
Vici Syndrome	Recurrent respiratory infections, Decreased circulating IgG2 level, Ureteral atresia, Renal tubul...	ORPHA:1493
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Anterior open-bite malocclusion, Thrombocytopenia	ORPHA:83601
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Hypoglycemia, Patent ductus arteriosus, Recurrent p...	OMIM:607143
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive...	OMIM:242840
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,...	ORPHA:544482
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hypoglycemia, Precocious puberty, Cryptorchidism, Hyperkalemia, Failure to thrive	OMIM:614736
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste...	OMIM:257220
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi...	OMIM:307200
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, High palate, Neutropenia, Hyperechogenic pancreas, Thrombocytope...	OMIM:617941
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated...	OMIM:220150
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Micrognathia, Carious teeth, Splenomegaly, Le...	OMIM:604173
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir...	OMIM:256040
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia	ORPHA:813
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Enamel hypoplasia, Retrognathia	OMIM:210720
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Sneddon Syndrome	Lymphopenia, Antiphospholipid antibody positivity, Decreased circulating total IgM	OMIM:182410
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly	OMIM:616622
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility	OMIM:612649
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia	OMIM:619057
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Cytoplasmic antineutrophil antib...	OMIM:608710
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Micrognathia, Trismus, Cerebral atrophy, Leukopenia, Neutropenia, Hepatic ste...	OMIM:616271
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancr...	ORPHA:435651
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria	OMIM:615605
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Maple Syrup Urine Disease	Hypoglycemia, Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevate...	OMIM:248600
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79324
Rothmund-Thomson Syndrome	Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesi...	ORPHA:2909
Cockayne Syndrome A	Mandibular prognathia, Hepatomegaly, Hip contracture, Reduced subcutaneous adipose tissue, Delaye...	OMIM:216400
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ...	OMIM:229600
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Elevated circulating C-rea...	ORPHA:85414
Roifman Syndrome	Thin upper lip vermilion, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Downturne...	ORPHA:353298
Camptodactyly-Taurinuria Syndrome	Increased urinary taurine, Aminoaciduria	ORPHA:1325
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Pancreatoblastoma	Weight loss, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph ...	ORPHA:677
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu...	ORPHA:508533
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop...	OMIM:610910
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Malabsorption	OMIM:152800
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:618838
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Seborrheic dermatitis, Hyperammonemia, Hyperleucinemia, Propi...	OMIM:210210
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Protruding tongue, Astrocytosis, Highly elevated crea...	ORPHA:258
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Abnormal large intestine morphology, Esophageal neoplasm, Weight loss, Ascites	ORPHA:2198
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:608779
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology, Hepatitis	ORPHA:1334
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr...	OMIM:601701
46,Xx Gonadal Dysgenesis	Pulmonary fibrosis	ORPHA:243
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Tetrasomy 12P	Cachexia	ORPHA:884
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i...	OMIM:106700
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An...	ORPHA:64744
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Hyperkalemia, Atopic dermatit...	ORPHA:171876
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Cleft palate, Cleft upper lip	ORPHA:398189
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia	OMIM:244460
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Ovarian Fibroma	Gonadal calcification, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit...	ORPHA:98907
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Mirizzi Syndrome	Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline phosphatase ...	ORPHA:521219
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati...	OMIM:124000
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ...	OMIM:269200
Mercaptolactate-Cysteine Disulfiduria	High, narrow palate, Aminoaciduria, High palate	OMIM:249650
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc...	ORPHA:98908
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Snakebite Envenomation	Hyponatremia, Gingival bleeding, Thrombocytopenia	ORPHA:449285
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Smooth philtrum, Megaloblastic anemia, Atrophy of the ...	ORPHA:79282
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic ...	ORPHA:2348
Primary Dystonia, Dyt13 Type	Abnormal repetitive mannerisms	ORPHA:98807
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Elevated circulating al...	ORPHA:67
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Relapsing Polychondritis	Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Atelectasis, ...	ORPHA:728
Acth Deficiency, Isolated	Jaundice, Fasting hypoglycemia, Cholestasis	OMIM:201400
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Stereotypical hand wringing, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive ...	OMIM:618917
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Elevated circulating ...	ORPHA:52430
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Esophageal varix, Stage 5 chronic kidney...	OMIM:243910
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia	OMIM:618158
Lichen Planopilaris	Hepatitis	ORPHA:525
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Small for gestational age, Hypoglycemia	ORPHA:231137
Donohue Syndrome	Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Fasting hypog...	OMIM:246200
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Temporal cortical atrophy, Astrocytosis, Frontotemporal c...	ORPHA:100070
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Ascites, Ab...	ORPHA:367
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Failure to thrive, Hypophos...	OMIM:241530
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr...	OMIM:123550
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
D-Glyceric Aciduria	Hypoglycemia, Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activity, Nonketotic h...	OMIM:220120
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia	ORPHA:134
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor...	ORPHA:143
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl...	ORPHA:537
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Abnormal pattern of respiration	ORPHA:833
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Gapo Syndrome	Amenorrhea, Hypogonadism, Dysmenorrhea, Oligozoospermia	ORPHA:2067
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan...	OMIM:208500
Immune Thrombocytopenia	Gingival bleeding, Thrombocytopenia	ORPHA:3002
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening	ORPHA:3258
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Decreased serum zinc, Hypogeusia	OMIM:201100
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Abnormal EKG, Hepatomegaly, Intercosta...	ORPHA:1329
Fanconi Renotubular Syndrome 1	Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia	OMIM:134600
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive mannerisms	OMIM:615637
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Cardiomegaly, D...	ORPHA:3092
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Micrognathia, Wide mouth, Increased mean corpuscular volume, Thick vermilion bor...	ORPHA:261250
Diamond-Blackfan Anemia	Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Micrognathia, Erythroid hypopla...	ORPHA:124
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Bachmann-Bupp Syndrome	Focal polymicrogyria, Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Anemia, Left ventricular hypertrophy, L...	OMIM:301500
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Microcytic anemia, Dyspnea, Macroglossia, 3-Methylglutaconic aciduria, N...	OMIM:251900
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Abnormal repetitive mannerisms	OMIM:617393
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Immunodeficiency 35	Recurrent respiratory infections, Increased circulating IgE level	OMIM:611521
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem...	OMIM:616113
Oslam Syndrome	Carious teeth	ORPHA:2760
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Lopes-Maciel-Rodan Syndrome	Agitation, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:617435
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Lymphadenopathy, Hypoca...	ORPHA:667
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Generalized aminoaci...	OMIM:219800
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperammonemia	ORPHA:391428
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o...	ORPHA:324964
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Poems Syndrome	Thrombocytosis, Lymphoproliferative disorder, Respiratory insufficiency due to muscle weakness, L...	ORPHA:2905
Temple Syndrome	Type II diabetes mellitus, Recurrent hypoglycemia, Small for gestational age, Obesity	ORPHA:254516
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
Timothy Syndrome	Pneumonia, Patent ductus arteriosus, Hypoglycemia, Hypocalcemia	OMIM:601005
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
3-Methylglutaconic Aciduria, Type V	Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas...	OMIM:610198
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypo...	OMIM:619055
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, N...	ORPHA:66634
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Cerebellar gliosis, ...	ORPHA:3008
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Intestinal obstruction, Intestinal lymphedema, Autoimmunity, B-...	ORPHA:90363
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Organic aciduria, Aspiration pneumonia, Failure to thrive, Pancreatitis	ORPHA:431361
Foxg1 Syndrome	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Stereotypical hand wringing, Bruxism	ORPHA:561854
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Epistaxis, Abnormal pleura morphology, Mediastinal lymphadenop...	ORPHA:397
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Stevens-Johnson Syndrome	Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnor...	ORPHA:36426
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Atelis Syndrome 2	Micrognathia, Diastema, Patent ductus arteriosus, Thick lower lip vermilion, Downturned corners o...	OMIM:620185
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypoglycemia	OMIM:618241
Pyridoxine-Dependent Epilepsy	Hypoglycemia	ORPHA:3006
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Hypospadias, Protru...	OMIM:214100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypoglycemia	ORPHA:48431
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Agel Amyloidosis	Tongue atrophy, Proteinuria, Respiratory tract infection, Xerostomia, Stage 5 chronic kidney dise...	ORPHA:85448
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Eczema, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repet...	OMIM:600430
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Osteogenesis Imperfecta, Type Xiii	Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Cranioectodermal Dysplasia 3	Micrognathia, Hypoplasia of teeth, Everted lower lip vermilion, Widely spaced teeth, Cirrhosis	OMIM:614099
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Mi...	ORPHA:1307
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hypoal...	OMIM:619534
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, An...	OMIM:615710
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency...	ORPHA:18
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, High nonceruloplasmin-bound serum copper, Brain atrophy, Retrognathia, Cerebral...	ORPHA:457351
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Autoimmunity, Nodular pattern ...	ORPHA:1546
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm	OMIM:613808
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, High palate, Thi...	OMIM:619005
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	ORPHA:480864
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate...	OMIM:614701
Necrotizing Enterocolitis	Hyponatremia, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Anemia, Decreased circulating total IgM, Decreased circulating IgG le...	OMIM:612301
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H...	ORPHA:861
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic...	ORPHA:20
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:610951
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Central Diabetes Insipidus	Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Beemer-Ertbruggen Syndrome	Deep philtrum, Thrombocytopenia, Micrognathia	ORPHA:1237
Tick-Borne Encephalitis	Thrombocytopenia, Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulatin...	ORPHA:297
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Failure to thrive, Cachexia	ORPHA:206436
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia, Cholestasis	OMIM:609734
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Cholestasis, Hypocalcemia, Diffuse hepatic steatosis, Chronic hepat...	ORPHA:746
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pan...	OMIM:235255
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Intestinal Dysmotility Syndrome	Failure to thrive, High palate, Weight loss	OMIM:620045
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ...	ORPHA:33577
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Type I diabetes me...	ORPHA:436252
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Respiratory insufficiency	ORPHA:147
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Erythrokeratodermia Variabilis	Abnormal testis morphology, Skin rash, Neoplasm of the skin, Weight loss	ORPHA:317
Phenylketonuria	Aminoaciduria	ORPHA:716
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Reduced subcutaneous adipose tissue, Abnormal dental...	ORPHA:191
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Donnai-Barrow Syndrome	Proteinuria, Intestinal malrotation	ORPHA:2143
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Behçet Disease	Myositis, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acne, Retrobulbar optic ne...	ORPHA:117
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Skin rash, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno...	OMIM:617600
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Cryptorchidism, Increased circulating IgE level, Abnormality of the ureter, ...	ORPHA:3409
Roifman Syndrome	Thin upper lip vermilion, Eosinophilia, Splenomegaly, Lymphadenopathy, Downturned corners of mout...	OMIM:616651
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Median cleft lip, Abnormal dental enamel morphology, Accessory ora...	ORPHA:2750
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia	ORPHA:974
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, High palate, Long philtrum, Lym...	OMIM:605309
Bloom Syndrome	Decreased circulating IgG level, Small for gestational age, Elevated hemoglobin A1c, Cryptorchidi...	OMIM:210900
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Microcytic anemia, Cleft upper lip, Gingival overgrowth,...	ORPHA:168569
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Leukocytosi...	ORPHA:319213
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency, Weight loss, Failure t...	ORPHA:1842
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Abnormal lung morphology, Weight loss, Pleuritis	ORPHA:767
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Patent ductus arteriosus, Deep philtrum, Downturned corner...	ORPHA:163956
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Pheochromocytoma, Nodular goiter	ORPHA:1332
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis, High pala...	OMIM:619127
Malonyl-Coa Decarboxylase Deficiency	Pachygyria, Hypoglycemia	OMIM:248360
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Orofacial cleft, Hepatic fibrosis, Hepatic failure	OMIM:615630
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Periodontitis, Abnor...	ORPHA:722
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Shukla-Vernon Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive...	OMIM:301029
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Small for gestational age, Hypochromic microcytic anemia, Mild proteinuria, ...	OMIM:619147
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca...	OMIM:309000
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Left ventricular hypertrophy, Weight loss	ORPHA:3208
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr...	ORPHA:444072
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor...	ORPHA:99880
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Thin upper lip vermili...	ORPHA:572798
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Respiratory insufficiency due to muscle weakness, Aminoaciduria	OMIM:609560
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Malabsorption, Leukocytosis, Asthma, Atopic dermatitis, Weight l...	ORPHA:2070
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Squamous cel...	ORPHA:79404
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Protruding tongue, Absent frontal sinuses, Diastema, Reduced alpha/beta sy...	OMIM:301040
Diamond-Blackfan Anemia 21	Micrognathia, Erythroid hypoplasia, Anemia, Narrow mouth, Thrombocytopenia	OMIM:620072
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Ciliary Dyskinesia, Primary, 22	Absent inner and outer dynein arms, Infertility, Reduced sperm motility	OMIM:615444
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile sperm	OMIM:242670
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, ...	OMIM:122470
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Hypotonia-Cystinuria Syndrome	Failure to thrive, Hypocalcemia, Neonatal hypoglycemia	OMIM:606407
21Q22.11Q22.12 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Dental crowding, Thick lower lip vermilion, Downturned...	ORPHA:261323
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s...	ORPHA:2357
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, Pancreatitis	OMIM:236200
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Micrognathia	ORPHA:808
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Inguinal hernia, Enamel hypoplasia, Cleft palate	OMIM:272460
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia	ORPHA:217346
Rubinstein-Taybi Syndrome 1	Accessory spleen, Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxi...	OMIM:180849
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Macroglossia, Reduced vital capacity, Exercise-induced myoglobinuria	ORPHA:352479
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Abnormal hemoglobin, Abnormality of the dentition, Thick lower lip ve...	ORPHA:847
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating creatine kinase concentration, ...	OMIM:616878
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hypoglycemia, Pneumonia, Jaundice, Hyperkalemia, Failure to thrive	ORPHA:90790
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Thymic Carcinoma	Neoplasm of the thymus, Dyspnea, Mediastinal lymphadenopathy, Weight loss, Cough	ORPHA:99868
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Autoimmune antibody positivity, Intraalveolar phospho...	ORPHA:747
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Knee fl...	OMIM:619503
Fanconi Anemia, Complementation Group D2	Pancytopenia, Patent ductus arteriosus, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow ...	OMIM:227646
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Hypoxemia, Abnormal circul...	ORPHA:70578
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Chron...	OMIM:244400
Acute Adrenal Insufficiency	Hyponatremia, Hypoglycemia, Hypercalcemia, Autoimmunity, Hyperkalemia, Weight loss, Increased cir...	ORPHA:95409
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r...	OMIM:618342
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia, Hashimoto thyroiditis, Cachexia	ORPHA:109
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Adult-Onset Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, High p...	ORPHA:171442
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Cleft palate, Ami...	OMIM:214110
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Autoimmune antibody positivit...	ORPHA:293978
Familial Glucocorticoid Deficiency	Hyponatremia, Autoimmunity, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Weight los...	ORPHA:361
Silver-Russell Syndrome 1	Small for gestational age, Fasting hypoglycemia, Hepatocellular carcinoma	OMIM:180860
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Decreased iduronate sulfatase level, Splenomegaly, Thick...	OMIM:309900
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia, Abnorma...	ORPHA:79243
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Dyspnea, Leukopenia, Myoglobinuria, Anemia	OMIM:255125
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Meckel diverticulum, Increased circulating IgA level, Bilateral cryptorchidism, Pylo...	OMIM:616395
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Diabetes mellitus, Breast hypoplasia, Oligozoospermia	OMIM:614813
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Fetal ascites, Micrognathia, Cor...	OMIM:261515
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundice, Hyperm...	ORPHA:469
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In...	ORPHA:2314
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Maternal Uniparental Disomy Of Chromosome 6	Cleft palate, Thrombocytopenia, Cleft upper lip	ORPHA:96181
Chops Syndrome	Splenomegaly, Cryptorchidism, High, narrow palate, Vesicoureteral reflux, Horseshoe kidney, Anoma...	OMIM:616368
Rothmund-Thomson Syndrome Type 2	Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent...	ORPHA:221016
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Rothmund-Thomson Syndrome Type 1	Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent...	ORPHA:221008
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Delayed eruption of teeth, Diffuse cerebral atrophy, Micrognathia, Carious te...	OMIM:214150
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben...	ORPHA:440437
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia	OMIM:301220
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Noonan Syndrome 4	Wide mouth, Thick vermilion border, Thrombocytopenia, Dental malocclusion	OMIM:610733
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Diaminopentanuria	Neurodegeneration	OMIM:222350
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Small for gestational age, Hypospadias, Microcytic anemia, T lymphocyto...	ORPHA:2959
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Hypophosphatemia, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Acute Disseminated Encephalomyelitis	Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Herpes simplex enc...	ORPHA:83597
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Chronic sinusitis, Thrombocytopenia	OMIM:606593
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ...	ORPHA:1655
Adrenomyodystrophy	Failure to thrive, Hepatic steatosis	ORPHA:977
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Gm1-Gangliosidosis, Type I	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, Decreased beta-galactosi...	OMIM:230500
Bardet-Biedl Syndrome 1	Diabetes mellitus, Dental crowding, High, narrow palate, Insulin resistance, Abnormality of the o...	OMIM:209900
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Addison Disease	Hyponatremia, Hypoglycemia, Hypercalcemia, Autoimmunity, Hyperkalemia, Weight loss, Increased cir...	ORPHA:85138
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Bone marrow hypocellularity, Neonatal hypoglycemia	ORPHA:445038
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	OMIM:617695
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Dyspnea, Chronic pulmonary obstr...	ORPHA:324
Chronic Graft Versus Host Disease	Fasciitis, Xerostomia, Cough, Bronchiectasis, Bronchiolitis obliterans, Esophageal ulceration, As...	ORPHA:99921
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U...	ORPHA:2804
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive	ORPHA:35710
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Micrognathia, Carious teeth, Downtu...	OMIM:620186
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H...	OMIM:219700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Sialidosis Type 1	Splenomegaly, Increased urinary O-linked sialopeptides, Aminoaciduria, Urinary excretion of sialy...	ORPHA:812
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Congestiv...	ORPHA:90308
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self...	OMIM:182290
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Chronic Hiccup	Weight loss	ORPHA:396
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Failure to thrive	ORPHA:2609
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Macrocephaly-Intellectual Disability-Autism Syndrome	Hepatic steatosis	ORPHA:210548
2Q23.1 Microdeletion Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu...	ORPHA:228402
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Micrognathia, Cleft upper lip, Reticulocytopeni...	OMIM:105650
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine level	OMIM:171420
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Focal Dermal Hypoplasia	Acute hepatic failure, Omphalocele, Inguinal hernia, Abnormal dental morphology, Abnormal dental ...	ORPHA:2092
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Subcutaneous hemorrhage, Pulmonary embolism	ORPHA:743
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Splenomegaly, Mediastinal lym...	ORPHA:379
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss, ...	ORPHA:764
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea	OMIM:250900
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Splenomeg...	ORPHA:2136
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Micrognathia, Pancreatic cysts, Leukocytosis, Patent ductus arteriosus, Cleft palat...	OMIM:274000
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia, Failu...	ORPHA:411629
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ...	ORPHA:17
Pheochromocytoma	Proteinuria, Elevated urinary norepinephrine level, Neoplasm, Pheochromocytoma, Renal artery sten...	OMIM:171300
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormality of dental color, Hypertriglyceridemia, P...	ORPHA:64
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Weight loss, Lymphadenopathy, Hepatosplenomegaly, O...	ORPHA:1333
Congenital Tracheomalacia	Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distr...	ORPHA:95430
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese...	ORPHA:79102
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Narrow palate, Long philtrum, High palate, Shor...	OMIM:619004
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation, Lipoid pneumonia	OMIM:620326
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Encephalitis Lethargica	Urinary incontinence, Increased circulating antibody level, Autoimmunity, Hyperventilation	ORPHA:83600
Adrenocortical Carcinoma	Increased urinary cortisol level, Adrenocortical carcinoma, Increased body weight, Weight loss, A...	ORPHA:1501
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Small for gestational age, Microcytic anemia, Respiratory insufficiency due to muscle weakness, M...	OMIM:612073
Monosomy 13Q34	Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity	ORPHA:96168
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Abnormal repetitive mannerisms, Inappropriate laughter, Stereotypical hand wringing	OMIM:614104
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Aplastic anemia, Thrombocytopenia	OMIM:300514
Rett Syndrome	Cachexia	OMIM:312750
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Dermotrichic Syndrome	Aminoaciduria, Aganglionic megacolon, Anemia	ORPHA:99688
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ...	ORPHA:449291
Nocardiosis	Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Conjunctivitis, Emphysem...	ORPHA:31204
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated urinary catecholamine lev...	OMIM:115310
Isaacs Syndrome	Weight loss	ORPHA:84142
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Pulmonary embolism	ORPHA:745
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Severe Intellectual Disability And Progressive Spastic Paraplegia	Abnormal repetitive mannerisms	ORPHA:280763
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Cardiom...	ORPHA:57777
Orofaciodigital Syndrome Viii	High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate	OMIM:300484
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Autoimmune antibody positiv...	ORPHA:99885
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ileus, Weight loss, Neoplasm, Ascites	ORPHA:168811
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lym...	ORPHA:85408
Liposarcoma	Sarcoma, Abnormality of the kidney, Weight loss	ORPHA:69078
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf...	ORPHA:83617
Scleromyxedema	Abnormality of the kidney, Abnormal lung morphology, Paraproteinemia, Abnormal pulmonary artery m...	ORPHA:167635
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Erythroderma, Failure to t...	OMIM:614328
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Polymicrogyria, Large for gestational age, Neonatal hypoglycemia, Decreased circulating IgA level	ORPHA:457485
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hy...	ORPHA:90062
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Broad uvula...	OMIM:619472
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Pachygyria, Hepatic steatosis, Decreased liver function	OMIM:614922
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem...	ORPHA:761
Complement Factor B Deficiency	Peritonitis, Pneumonia, Decreased circulating complement factor B concentration	OMIM:615561
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prolonged n...	ORPHA:90673
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Thin upper lip vermilion, Abnormal abdomen morphology, Jaundice, H...	OMIM:619475
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Digeorge Syndrome	Impaired T cell function, Micrognathia, Splenomegaly, Patent ductus arteriosus, High, narrow pala...	OMIM:188400
Mucopolysaccharidosis Type 7	Splenomegaly, Hepatitis	ORPHA:584
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Lacticaciduria, Aspiration pneumonia, Left ventricular hypertrophy	OMIM:619167
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Malabsorption, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nep...	ORPHA:47159
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Weight loss	ORPHA:704
Schwartz-Jampel Syndrome	Decreased body weight, Elevated circulating creatine kinase concentration, Cachexia, Elevated cir...	ORPHA:800
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Reduced sperm motility	OMIM:615434
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis, Obesity	ORPHA:254346
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Dental crowding, Microdontia, Splenomegaly, Patent ductus arteriosus, Cerebral atro...	OMIM:618268
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Abnormal lung lobation, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosi...	ORPHA:369837
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, As...	ORPHA:354
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,...	ORPHA:309031
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Downturned corners of mouth, Malar flattening, Thrombocytopenia, Abnormality of the dentition	OMIM:612394
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration	OMIM:620306
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating total IgM, Basal cell carcinoma, Melanoma,...	OMIM:620040
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr...	ORPHA:370348
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Eczema, Recurrent pneumonia, Recurrent otitis media, Abnormal repetitive mannerisms	OMIM:617751
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Hypoglycemia	OMIM:229700
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Hiatus hernia	ORPHA:2065
Wagro Syndrome	Proteinuria, Multiple exostoses, Obesity, Nephroblastoma, Decreased testicular size	OMIM:612469
Ciliary Dyskinesia, Primary, 5	Reduced sperm motility	OMIM:608647
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Slc39A8-Cdg	Abnormal blood zinc concentration, Elbow flexion contracture, Knee flexion contracture, Abnormali...	ORPHA:468699
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Reduced forced vital capacity, Restrictive ventilatory defect, Ma...	OMIM:607155
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Recurrent hypoglycemia, Small for gestational age	OMIM:616817
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Micrognathia	OMIM:619036
Aromatase Deficiency	Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hepati...	ORPHA:91
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of neutrophils, Micrognathia, Abnormality of the dentition...	ORPHA:235
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive	OMIM:250620
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Inflammatory abnormality of the skin, Failure to thrive, Increased circ...	OMIM:610768
Johanson-Blizzard Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:243800
Isolated Thyroid-Stimulating Hormone Deficiency	Macroglossia, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulating thyroglobul...	ORPHA:90674
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Juvenile Polyposis Of Infancy	Patent ductus arteriosus, Hypoalbuminemia, Cachexia	ORPHA:79076
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, A...	ORPHA:93111
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Hyperlipidemia, Increased body weight, Glucose intolerance, Abdominal obesity, Hepatic stea...	ORPHA:189427
Peeling Skin Syndrome 1	Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, ...	ORPHA:293173
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Intestinal obstruction, Increased circulating IgA level, Peritonitis, Lymphadenopat...	ORPHA:343
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Failure to thrive, Hypoglycemia, Eczema, H...	ORPHA:506
Supranuclear Palsy, Progressive, 1	Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Gliosis, Senile plaques, Neuronal l...	OMIM:601104
Biotinidase Deficiency	Hepatomegaly, Diffuse cerebral atrophy, Splenomegaly, Hyperammonemia, Diffuse cerebellar atrophy,...	OMIM:253260
Hyperlipoproteinemia, Type Id	Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Holoprosencephaly	Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Failure to thrive in infancy, Abno...	ORPHA:2162
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Giant hypertrophic gastritis, Weight loss	ORPHA:2494
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos...	OMIM:617913
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Focal Dermal Hypoplasia	Omphalocele, Delayed eruption of teeth, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u...	OMIM:305600
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Micronodular cirrhosis, Proteinuria	OMIM:192315
Ivic Syndrome	Patent ductus arteriosus, Leukocytosis, Thrombocytopenia	OMIM:147750
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Primary Triglyceride Deposit Cardiomyovasculopathy	Abnormal circulating enzyme concentration or activity, Hepatomegaly, Elevated circulating creatin...	ORPHA:565612
Transketolase Deficiency	Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivitis, Compulsive behaviors, At...	ORPHA:488618
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting	ORPHA:3306
Orthostatic Hypotension 2	Hypoglycemia	OMIM:618182
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Histiocytosis-Lymphadenopathy Plus Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega...	OMIM:602782
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Mandibular...	OMIM:269700
Coffin-Siris Syndrome 7	Hyperactivity, Severe temper tantrums, Compulsive behaviors, Recurrent otitis media, Abnormal rep...	OMIM:618027
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Recurrent pneumonia, Abnormal repetitive mannerisms	ORPHA:397612
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Micropenis	OMIM:300519
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Macroglossia, Urinary glycosaminoglycan excretion, Aspiration pneumonia, Incr...	ORPHA:79255
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Fatal Familial Insomnia	Urinary retention, Apnea, Weight loss	OMIM:600072
Cholera	Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Aspirati...	ORPHA:173
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, S...	ORPHA:280365
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Obesity, Reactive hypoglycemia	OMIM:600955
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemia, Optic neur...	ORPHA:509
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Silver-Russell Syndrome Due To A Point Mutation	Small for gestational age, Hypoglycemia	ORPHA:397590
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Xq28 (MECP2) duplication	Abnormal repetitive mannerisms, Dysphagia	DECIPHER:45
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Aspirati...	ORPHA:70588
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria, Intestinal malrotation	OMIM:222448
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M...	ORPHA:818
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	ORPHA:208447
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Conjunct...	ORPHA:95455
Thrombocytopenia-Absent Radius Syndrome	Cleft palate, Thrombocytopenia, Micrognathia	ORPHA:3320
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Elevated ga...	ORPHA:100086
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal repetitive mannerisms, Aspiration pneumonia, Dysphagia	ORPHA:79264
22Q11.2 Deletion Syndrome	Abnormality of the tonsils, Abnormal dental enamel morphology, Abnormality of the dentition, Micr...	ORPHA:567
Huntington Disease-Like 2	Weight loss	OMIM:606438
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Kabuki Syndrome 1	Hemolytic anemia, Micrognathia, Autoimmune thrombocytopenia, Abnormality of the dentition, Cleft ...	OMIM:147920
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lympha...	ORPHA:51
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide concentration	ORPHA:100093
Glucocorticoid Deficiency 1	Recurrent hypoglycemia, Failure to thrive	OMIM:202200
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia	OMIM:201910
Developmental And Epileptic Encephalopathy 6B	Abnormal repetitive mannerisms	OMIM:619317
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Hemolytic anemia, Elevated circulating creatine kinase concentration	OMIM:175780
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ...	ORPHA:2658
Malt Lymphoma	Recurrent respiratory infections, B-cell lymphoma, Mediastinal lymphadenopathy, Lymphadenopathy, ...	ORPHA:52417
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Aggressive behavior, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsiv...	OMIM:300986
Houge-Janssens Syndrome 1	Hypoglycemia	OMIM:616355
Hurler Syndrome	Hepatomegaly, Splenomegaly, Enlarged tonsils, Gingival overgrowth, Hepatosplenomegaly, Macrogloss...	OMIM:607014
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemi...	ORPHA:71493
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Reduced subcutaneous adipose tissue, Delayed eruption of pri...	OMIM:133540
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Sotos Syndrome	Patent ductus arteriosus, Increased body weight, Glucose intolerance, Otitis media, Prolonged neo...	OMIM:117550
Loeffler Endocarditis	Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy	ORPHA:75566
Sheehan Syndrome	Hyponatremia, Hypoglycemia, Antinuclear antibody positivity, Obesity, Hashimoto thyroiditis	ORPHA:91355
Tenorio Syndrome	Hypoglycemia, Recurrent pneumonia, Keratoconjunctivitis sicca, Recurrent aphthous stomatitis, Hyp...	OMIM:616260
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Scheie Syndrome	Hepatomegaly, Splenomegaly, Wide mouth, Thick vermilion border, Everted lower lip vermilion	ORPHA:93474
Potocki-Lupski Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia	OMIM:610883
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Lynch Syndrome	Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Glioblastoma multiform...	ORPHA:144
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Recurrent pneumonia, Abnormal repetitive mannerisms, Eczema	ORPHA:500159
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury	ORPHA:330021
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Craniofacial osteosclerosis...	ORPHA:1328
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Cerebral atrophy, Gliosis, Neurodegeneration, Left ventricular hypertrophy	OMIM:618321
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Jaundice, Oligozoospermia, Systemic lupus erythematosus, Liss...	ORPHA:3310
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Intestinal obstruction, Pituitary growth hormone cell adenoma, ...	ORPHA:913
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Asthma, Obesity, Micropenis, Pancreatitis	OMIM:619471
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt...	ORPHA:536467
Shashi-Pena Syndrome	Patent ductus arteriosus, Hypoglycemia	OMIM:617190
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy	ORPHA:2483
Hennekam-Beemer Syndrome	Pneumonia, Respiratory insufficiency, High palate, Mastocytosis, Failure to thrive	ORPHA:2135
Malignant Atrophic Papulosis	Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss, Respiratory failure, Arteri...	ORPHA:679
Opsismodysplasia	Long philtrum, Hypophosphatemia	OMIM:258480
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100080
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy	ORPHA:79456
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia, Splenomegaly, Increased intramyocellular lipid dro...	OMIM:252010
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Splenomegaly, Gingival overgrowth, Macroglossia, Widely spaced teeth, Neurodegenera...	OMIM:253220
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Adenoiditis, Heparan sulfate excretion in urine...	ORPHA:581
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan sul...	OMIM:253200
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the dentition, Supernumerary tooth,...	ORPHA:733
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Abnormal repetitive mannerisms	OMIM:619092
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Fasting hypoglycemia	ORPHA:436174
8P23.1 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss, High palate	ORPHA:251071
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Micrognathia, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in ...	OMIM:256600
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Lamb-Shaffer Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Abnormal temper tantrums	ORPHA:530983
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:618430
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Eczema, Cryptorchidism, Velopharyngeal insufficiency, Submucous cle...	OMIM:223370
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal repetitive mannerisms	OMIM:613443
Cystic Fibrosis	Recurrent respiratory infections, Sinusitis, Meconium ileus, Reduced forced expiratory volume in ...	ORPHA:586
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:391307
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Mgat2-Cdg	Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thri...	ORPHA:79329
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Polyendocrine-Polyneuropathy Syndrome	Type II diabetes mellitus, Hypoglycemia, Hypoinsulinemia	ORPHA:453533
Pancreatic And Cerebellar Agenesis	Diabetes mellitus, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Failure to thrive, Pancrea...	OMIM:609069
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Wrinkly Skin Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, High palate, High nonce...	ORPHA:2834
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disorder, Rec...	OMIM:619580
Leprechaunism	Hepatomegaly, Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin leve...	ORPHA:508
Glycerol Kinase Deficiency	Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hyperglycerolemia, Chronic pancrea...	OMIM:307030
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity, Neonatal hypoglycemia	OMIM:608624
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bruxism, Re...	OMIM:300912
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal corti...	ORPHA:397715
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:411986
Ileal Neuroendocrine Tumor	Intestinal fistula, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron deficiency anemi...	ORPHA:100078
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Inguinal hernia, Abnormality of the dentition, Cleft palate, Prolonged ...	ORPHA:363611
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Fanconi Anemia	Leukopenia, Abnormality of the liver, Neoplasm, High palate, Hypospadias, Myelodysplasia, Aplasia...	ORPHA:84
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Malabsorption, Asthma, Squamous cell carcinoma...	OMIM:601675
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Failure to thrive, Neonatal hypogl...	ORPHA:90791
Intellectual Developmental Disorder, Autosomal Recessive 71	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Cachexia, Splenomegaly, Autoimmu...	ORPHA:75565
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Pheochromocytoma, Myelodyspl...	ORPHA:97685
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism	OMIM:618004
Peritoneal Cystic Mesothelioma	Peritonitis, Neoplasm, Weight loss	ORPHA:168816
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Post-Traumatic Pituitary Deficiency	Hypoglycemia	ORPHA:95619
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy	OMIM:253700
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, C...	OMIM:301066
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia	OMIM:616095
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Trisomy 18	Cachexia	ORPHA:3380
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620242
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Weight loss, Arthrit...	ORPHA:92050
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepati...	OMIM:616263
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Patent ductus arteriosus, Failure to thrive, Hypoglycemia	OMIM:618005
Carney Triad	Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Pheo...	ORPHA:139411
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Atypical pulmonar...	ORPHA:100082
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion...	ORPHA:353281
4Q21 Microdeletion Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Erythroderma	ORPHA:312
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ...	OMIM:617061
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocytosis, Lymp...	ORPHA:32960
Dentici-Novelli Neurodevelopmental Syndrome	Abnormal repetitive mannerisms	OMIM:619877
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Cimdag Syndrome	Microvesicular hepatic steatosis, Polymicrogyria, Cholelithiasis, Hepatomegaly	OMIM:619273
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem	OMIM:612319
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Basilicata-Akhtar Syndrome	Neonatal hypoglycemia	OMIM:301032
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms	ORPHA:168782
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosaccharidur...	ORPHA:309282
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Cri-Du-Chat Syndrome	Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Self-mutilation, Oppositional...	OMIM:123450
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D...	OMIM:618371
Hydroxykynureninuria	Stomatitis, Abnormal repetitive mannerisms	ORPHA:79155
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Gastrointestinal Stromal Tumor	Intestinal obstruction, Skin rash, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esopha...	ORPHA:44890
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Dysphagia, Bruxism	OMIM:300260
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem...	ORPHA:707
Say-Barber-Miller Syndrome	Micrognathia, Carious teeth, Transient hypogammaglobulinemia of infancy, Decreased circulating an...	ORPHA:3132
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level	ORPHA:90368
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone c...	OMIM:131100
Pituitary Stalk Interruption Syndrome	Failure to thrive, Hypoglycemia	ORPHA:95496
American Trypanosomiasis	Splenomegaly, Lymphadenopathy	ORPHA:3386
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Neoplasm of the thymus, Intrahepa...	ORPHA:97261
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Hereditary Bullous Dystrophy, Macular Type	Decreased testicular size, Cryptorchidism, Pneumonia	ORPHA:1867
Familial Tumoral Calcinosis	Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,...	ORPHA:53715
Intellectual Developmental Disorder, Autosomal Dominant 52	Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica	OMIM:617796
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Glucocorticoid Resistance, Generalized	Hypoglycemia	OMIM:615962
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia	ORPHA:565624
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Renal hypophosphatemia, Hypophosphatemic rickets, Hypocalcemic tetany,...	ORPHA:289176
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy	OMIM:617672
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Narrow palate, Cleft palate, T lymphocytopenia, Abnormal B cell morphology...	OMIM:618223
Chromosome 5P13 Duplication Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors	OMIM:613174
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Iron deficiency anemia, Broncho...	ORPHA:100075
Jacobsen Syndrome	Smooth philtrum, Cerebral atrophy, Abnormal palate morphology, Bone marrow hypocellularity, Long ...	ORPHA:2308
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration	ORPHA:438134
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Agitation, Abnormal repetitive mannerisms	ORPHA:927
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn...	OMIM:616268
Glucocorticoid Deficiency 2	Recurrent hypoglycemia	OMIM:607398
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Neurodegeneration	OMIM:615889
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Abnormal circulating thyroglobulin level, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:226307
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Simplified gyral patte...	OMIM:220111
Jacobsen Syndrome	U-Shaped upper lip vermilion, Annular pancreas, Thrombocytopenia, Micrognathia	OMIM:147791
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysphagia, Abnormal r...	OMIM:619312
Rett Syndrome	Agitation, Abnormal repetitive mannerisms, Cholecystitis, Stereotypical hand wringing	ORPHA:778
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Patent ductus arter...	OMIM:135500
Glossopharyngeal Neuralgia	Schwannoma, Neoplasm, Autoimmunity, Weight loss	ORPHA:221098
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Hypoglycemia	OMIM:620275
Cleft Velum	Recurrent otitis media, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia	ORPHA:99772
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97283
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilobate gallbladder, Bilateral cleft lip, Clef...	OMIM:261540
Smith-Magenis Syndrome	Chronic otitis media, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit ...	ORPHA:819
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Penile hypospadias, Recurrent aspiration pneumonia, Hepatic hemangioma	ORPHA:73230
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Pituitary Hormone Deficiency, Combined, 2	Neonatal hypoglycemia, Hypoglycemic seizures	OMIM:262600
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Neurodegeneration With Brain Iron Accumulation 6	Neurodegeneration	OMIM:615643
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo...	ORPHA:273
Ritscher-Schinzel Syndrome 4	Impulsivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	OMIM:619435
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi...	OMIM:304150
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi...	ORPHA:97282
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta...	ORPHA:353277
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Obsessive-compulsive trait, Abnormal repetitive mannerisms, Aggressive behavior	ORPHA:168491
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Short philtrum, Hyperbilirubinemia, Prolonged neonatal jaundice	OMIM:210710
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Weight loss	OMIM:275000
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism...	OMIM:619103
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Splenomegal...	ORPHA:576
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Abnormal repetitive mannerisms	OMIM:617807
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Hypoglycemia	ORPHA:457279
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Neoplasm of...	ORPHA:744
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia	ORPHA:314655
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Nodula...	ORPHA:404454
Pituitary Apoplexy	Hyponatremia, Hypoglycemia	ORPHA:95613
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Hemato...	ORPHA:217260
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Occipital Horn Syndrome	Esophagitis, Jaundice, Hepatitis, Cholestasis	ORPHA:198
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephr...	ORPHA:904
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Cleft palate, Pelvic kidney, Failure to thrive, Recurrent aspiration pneumonia, D...	OMIM:247200
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho...	ORPHA:97278
Spondyloepimetaphyseal Dysplasia, Krakow Type	Eczema, Allergic rhinitis, Asthma, Decreased circulating total IgM, High palate, Annular pancreas	OMIM:618162
Kabuki Syndrome 2	Recurrent otitis media, Neonatal hypoglycemia, Decreased body weight	OMIM:300867
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary h...	ORPHA:653
Roberts Syndrome	Cleft upper lip, Micrognathia, Cleft palate, High palate, Malar flattening, Thrombocytopenia	ORPHA:3103
Congenital Analbuminemia	Small for gestational age, Recurrent lower respiratory tract infections, Increased circulating an...	ORPHA:86816
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Keratoconjunctivitis sicca, Hypoglycemia	OMIM:616007
Marfan Syndrome	Arthralgia/arthritis, Slender build, Cachexia	ORPHA:558
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Intrarenal abscess, Granuloma, Infect...	ORPHA:68
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:619121
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Cerebral Visual Impairment	Infectious encephalitis, Neonatal hypoglycemia	ORPHA:447788
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Eczema, Compulsive beha...	ORPHA:1001
Acrodermatitis Enteropathica	Glossitis, Malabsorption, Pustule, Cheilitis, Weight loss, Furrowed tongue, Conjunctivitis, Failu...	ORPHA:37
Opitz Gbbb Syndrome	Enlarged ovaries, Hypospadias, Tracheomalacia, Cryptorchidism, Tracheoesophageal fistula, Cleft p...	ORPHA:2745
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria	OMIM:273400
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Orofaciodigital Syndrome Ix	High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate	OMIM:258865
Aymé-Gripp Syndrome	Cryptorchidism, Pericarditis, Proteinuria, Cleft palate	ORPHA:1272
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Deep philtrum, Retrognathia, Decreased serum iron	ORPHA:438213
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal atresia, Anal stenosis, Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dy...	ORPHA:280633
Turner Syndrome Due To Structural X Chromosome Anomalies	Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Hyperinsulinemia, Bili...	ORPHA:99413
Mosaic Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Hyperinsulinemia, Bili...	ORPHA:99228
Monosomy X	Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Hyperinsulinemia, Bili...	ORPHA:99226
Turner Syndrome	Elevated hepatic transaminase, Failure to thrive in infancy, Autoimmunity, Hyperinsulinemia, Bili...	ORPHA:881
Beckwith-Wiedemann Syndrome	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Large for gesta...	ORPHA:116
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Erythroderma	ORPHA:35173
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Insulin resistance, Fasting hypoglycemia, Esophagitis, Failure to thrive	ORPHA:96182
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Hypoglycemia	OMIM:614501
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Histiocytoid Cardiomyopathy	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:137675
Coffin-Siris Syndrome	Hypospadias, Cryptorchidism, Recurrent upper respiratory tract infections, Horseshoe kidney, Papi...	ORPHA:1465
Pallister-Killian Syndrome	Omphalocele, Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Delayed erupt...	OMIM:601803
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Eczema, Periventricular heterotopia, Splenomegaly, Patent ductus arteriosus, Choles...	OMIM:270400
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Chromosome 15Q11.2 Deletion Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Juvenile rheumatoid art...	OMIM:615656
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Neurodegeneration, Cerebral cortical atrophy, Cerebral atrophy	OMIM:615157
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repetitive mannerisms...	OMIM:616364
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms	OMIM:616393
Carney-Stratakis Syndrome	Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma, Weight loss	ORPHA:97286
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Cryptorchidism, Jaundice, Obesity, High palate, Moderate albumi...	OMIM:614231
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:98784
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Splenomegaly, Defective production of NFKB1-dependent cytokines, Hyp...	OMIM:612132
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli...	ORPHA:79474
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Splenomegaly, M...	ORPHA:3385
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia	ORPHA:25
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla...	ORPHA:2556
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors, Abnormal rep...	ORPHA:476126
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Argininosuccinic Aciduria	Hepatomegaly, Failure to thrive, Aminoaciduria, Hepatic fibrosis, Oroticaciduria	OMIM:207900
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Asthma, Vesicoureteral reflux, Horseshoe kidney, Obesity, Glossoptosis, Macroglossia...	ORPHA:444077
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Perlman Syndrome	Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestational age	OMIM:267000
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Cryptorchidism, Pyloric stenosis, Recurrent upper respiratory tr...	OMIM:602535
Kleefstra Syndrome	Aggressive behavior, Self-injurious behavior, Chronic otitis media, Abnormal repetitive mannerism...	ORPHA:261494
Kleefstra Syndrome 1	Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior	OMIM:610253
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Congenital Disorder Of Glycosylation, Type Iia	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Aggressive behavior	OMIM:212066
Menkes Disease	Osteomyelitis, Hypoglycemia, Prolonged neonatal jaundice	ORPHA:565
Phelan-Mcdermid Syndrome	Tongue thrusting, Abnormal repetitive mannerisms, Aggressive behavior, Bruxism	OMIM:606232
3P25.3 Microdeletion Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:435638
Rauch-Steindl Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Blau Syndrome	Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morphology, Anemia	ORPHA:90340
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Recurrent otitis...	OMIM:619575
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Micrognathia, High, narrow pa...	OMIM:163950
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia, Hepatomegaly	OMIM:617809
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
3-Methylglutaconic Aciduria, Type Viii	Neonatal hypoglycemia, Patent ductus arteriosus, Failure to thrive, Jaundice	OMIM:617248
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Autoimmune antibody positivity, Small for gestational age, Weight loss	ORPHA:424
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia, Broad philtrum, Micrognathia	OMIM:620305
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Renal salt wasting, Long penis, Testicular adrenal rest tumor, Elevated urinary epinephrine...	ORPHA:90794
Rett Syndrome, Congenital Variant	Tongue thrusting, Abnormal repetitive mannerisms, Bruxism	OMIM:613454
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Recurrent urinary tract infections, Urinary retention, Aspiration pneumonia	ORPHA:99027
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia, Protruding tongue	ORPHA:53351
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Paten...	OMIM:617088
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Failure to thrive in infancy, Bilateral renal dyspl...	ORPHA:500150
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Cerebral Creatine Deficiency Syndrome 1	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:300352
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Aspiration pneumonia	OMIM:616430
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal...	ORPHA:538
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Protruding tongue, Decreased circulating antibody level, High pa...	OMIM:617062
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio...	OMIM:619482
Xeroderma Pigmentosum	Keratitis, Cryptorchidism, Aminoaciduria, Neoplasm, Melanoma, Papilloma, Neoplasm of the eye, Fai...	ORPHA:910
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Abdominal obesity, Hepatic steatosis	OMIM:619321
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet...	ORPHA:468678
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, High palate, Recurrent aspiration pneumonia, Bifid...	OMIM:300472
Tay-Sachs Disease	Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Aplasia of the right hemidiaphragm, Micrognathia...	OMIM:619841
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Tented upper lip vermilion, Neurodegeneration, Hypocalcemia, Craniofacial osteosclerosis	OMIM:618476
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:615491
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Abnormal repetitive mannerisms, Dysphagia	ORPHA:496641
Bainbridge-Ropers Syndrome	Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms	OMIM:615485
Alkaptonuria	Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis	ORPHA:56
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Abnormal lung morphology, Jaun...	ORPHA:646
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration	ORPHA:803
Pmm2-Cdg	Respiratory distress, Pericarditis, Proteinuria, Abnormal liver parenchyma morphology, Nephrotic ...	ORPHA:79318
Proximal 16P11.2 Microdeletion Syndrome	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:261197
Adrenoleukodystrophy	Elevated circulating long chain fatty acid concentration, Neurodegeneration	OMIM:300100
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Polyphagia, Self-injurious behavior, Chronic o...	ORPHA:96121
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Volvulus	OMIM:616682
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Neurodegeneration, Elevated circulati...	OMIM:614298
Joubert Syndrome 6	Abnormal repetitive mannerisms	OMIM:610688
Familial Gestational Hyperthyroidism	Autoimmune antibody positivity, Weight loss	ORPHA:99819
Intellectual Developmental Disorder, Autosomal Dominant 68	Patent ductus arteriosus, Hepatic steatosis	OMIM:619934
Norrie Disease	Diabetes mellitus, Failure to thrive, Cachexia	ORPHA:649
Prader-Willi Syndrome Due To Translocation	Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia	OMIM:271510
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:300894
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilitis	ORPHA:2273
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Hypospadias, Pneumonia, Small for gestational age, Cryptorchidi...	OMIM:264090
Neurodegeneration With Brain Iron Accumulation 3	Decreased circulating ferritin concentration, Neurodegeneration	OMIM:606159
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms	ORPHA:2479
Pyruvate Dehydrogenase E2 Deficiency	Abnormal circulating enzyme concentration or activity, Neurodegeneration	ORPHA:79244
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal repetitive mannerisms	ORPHA:300570
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Intestinal pseudo-obstruction, Respiratory insufficiency, Weight loss	OMIM:607459
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma	OMIM:606764
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Repetitive compulsive behavior, Abnormal repetitive mannerisms, Self-mutilation, Self-biting	ORPHA:522077
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Fontaine Progeroid Syndrome	Small for gestational age, Protruding tongue, Cryptorchidism, High, narrow palate, Pneumothorax, ...	OMIM:612289
Acute Transverse Myelitis	Decreased circulating copper concentration	ORPHA:139417
1P36 Deletion Syndrome	Abnormality of the spleen, Patent ductus arteriosus, Obesity, Abnormality of the liver, Annular p...	ORPHA:1606
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Abnormality of humoral immunity, Septi...	ORPHA:642
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:610954
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Neuroendocrine Neoplasm Of Appendix	Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100079
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Recurrent skin infections, Slender build, Synovitis, Type II diabetes melli...	ORPHA:3455
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ...	OMIM:619512
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
X-Linked Intellectual Disability, Armfield Type	Facial capillary hemangioma, Cryptorchidism, Cleft palate, Aminoaciduria, Organic aciduria, Galac...	ORPHA:85276
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Wiedemann-Steiner Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior	ORPHA:319182
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Gm2 Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	ORPHA:309246
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyphagia, Self-inj...	OMIM:620330
Costello Syndrome	Failure to thrive, Hypoglycemia	OMIM:218040
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Small for gestational age, Hypoglycemia, Hyperkalemia, Decreased circulating renin ...	OMIM:201750
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy	ORPHA:478029
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio...	OMIM:615873
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia	ORPHA:447997
Beckwith-Wiedemann Syndrome	Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Neonatal hypoglycemia	OMIM:130650
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Hip osteoarthritis, Ab...	ORPHA:580
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Eczema	ORPHA:468631
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Eczema	ORPHA:464306
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Kinsship Syndrome	Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Chikungunya	Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy	ORPHA:324625
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Semilobar Holoprosencephaly	Central apnea, Cleft palate, Bifid uvula, High palate, Aspiration pneumonia, Failure to thrive, A...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Cleft palate, Bifid uvula, High palate, Aspiration pneumonia, Failure to thrive, A...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Cleft palate, Bifid uvula, High palate, Aspiration pneumonia, Failure to thrive, A...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Cleft palate, Bifid uvula, High palate, Aspiration pneumonia, Failure to thrive, A...	ORPHA:93924
Van Esch-O'Driscoll Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity	OMIM:301030
Gm2-Gangliosidosis, Ab Variant	Neurodegeneration, Cerebral atrophy	OMIM:272750
Glycogen Storage Disease Of Heart, Lethal Congenital	Neonatal hypoglycemia	OMIM:261740
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Recurrent otitis media, Repetitive compulsive behavior, Stereotypical body rocking, Abnormal repe...	ORPHA:513456
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	ORPHA:464311
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ...	ORPHA:2152
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Upper airway obstruction, Weight loss, High palate, Severe failure to thrive, Pul...	ORPHA:740
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria	OMIM:609242
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Abnormal repetitive mannerisms	OMIM:618653
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurodegeneration, Cerebral atrophy	OMIM:610217
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Hypotonia, Ataxia, And Delayed Development Syndrome	Abnormal repetitive mannerisms, Dysphagia	OMIM:617330
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration	OMIM:615919
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Sotos Syndrome	Hypercalcemia, Patent ductus arteriosus, Prolonged neonatal jaundice, Chronic otitis media, Neona...	ORPHA:821
Multiple Osteochondromas	Pneumothorax, Hemothorax	ORPHA:321
Non-Acquired Panhypopituitarism	Hypoglycemia	ORPHA:90695
Yunis-Varon Syndrome	Hypospadias, Small for gestational age, Failure to thrive in infancy, Cryptorchidism, Pyloric ste...	OMIM:216340
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:614756
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat...	OMIM:309800
Holoprosencephaly 1	Hypoglycemia	OMIM:236100
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypoglycemia	ORPHA:95494
Nmda Receptor Encephalitis	Hypersexuality, Agitation, Abnormal repetitive mannerisms	ORPHA:217253
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:612474
Primrose Syndrome	Elevated circulating alpha-fetoprotein concentration, Hypoplasia of the maxilla, Thick lower lip ...	OMIM:259050
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration	OMIM:146500
Coffin-Siris Syndrome 12	Abnormal repetitive mannerisms	OMIM:619325
Wolf-Hirschhorn Syndrome	Abnormal repetitive mannerisms	OMIM:194190
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia	OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Recurrent otitis media, Abnormal repetitive mannerisms, Dysphagia, Bruxism	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Recurrent otitis media, Abnormal repetitive mannerisms, Dysphagia, Bruxism	ORPHA:261552

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 Nfe2l2

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 Nfe2l2.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Complementary gene regulation by NRF1 and NRF2 protects against hepatic cholesterol overload.	Cell reports (April 2023)	Nfe2l2^{tm1a(KOMP)Wtsi}	37060561
NRF1 Is an ER Membrane Sensor that Is Central to Cholesterol Homeostasis.	Cell (November 2017)	Nfe2l2^{tm1a(KOMP)Wtsi}	29149604

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Nfe2l2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Nfe2l2^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Nfe2l2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nfe2l2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfe2l2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Nfe2l2 MGI:108420

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Nfe2l2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data