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Gene: Clpp MGI:1858213

Gene Summary

Name:

caseinolytic mitochondrial matrix peptidase proteolytic subunit

Synonyms:

D17Wsu160e

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
decreased lean body mass	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.30×10^-07
female infertility	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased effector memory CD8-positive, alpha-beta T cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased mean corpuscular hemoglobin	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.88×10^-15
male infertility	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased circulating glucose level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.12×10^-06
increased circulating iron level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.49×10^-12
decreased memory-marker CD4-positive NK T cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased mature B cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased Ly6C high monocyte number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased bone mineral content	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.75×10^-14
increased KLRG1-positive NK cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased hemoglobin content	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.06×10^-06
increased lean body mass	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.32×10^-06
decreased CD4-positive NK T cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased total body fat amount	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.63×10^-05
tremors	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.12×10^-05
decreased memory-marker CD4-negative NK T cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
abnormal auditory brainstem response	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.39×10^-06
increased circulating alkaline phosphatase level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.87×10^-08
thrombocytopenia	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.18×10^-06
decreased NK T cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased B cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased circulating fructosamine level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.48×10^-07
increased circulating serum albumin level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.72×10^-07
decreased bone mineral density	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.14×10^-13
decreased gamma-delta T cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased circulating bilirubin level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	4.15×10^-18
increased circulating aspartate transaminase level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.97×10^-06
increased circulating cholesterol level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.09×10^-06
decreased body length	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.24×10^-15
abnormal bone structure	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.69×10^-14
increased hematocrit	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.60×10^-05
increased Ly6C low monocyte number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
increased total body fat amount	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	5.97×10^-10
increased monocyte cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	0.00
decreased red blood cell distribution width	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.74×10^-06
increased circulating glycerol level	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	3.95×10^-06
increased leukocyte cell number	Clpp^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	7.12×10^-06

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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.

Spleen Immunophenotyping

Images associated with FACS analysis

48 Images

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Mesenteric Lymph Node Immunophenotyping

Images associated with FACS analysis

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

2 Images

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DSS Histology

Images

8 Images

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Bone marrow immunophenotyping

Images associated with FACS analysis

5 Images

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Anti-nuclear antibody assay

Images

6 Images

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Eye Morphology

Images Slit Lamp

5 Images

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X-ray

XRay Images Whole Body Lateral Orientation

2 Images

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X-ray

XRay Images Forepaw

2 Images

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X-ray

XRay Images Skull Lateral Orientation

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Clpp^{tm1a(EUCOMM)Wtsi}
HOM, Female, WTSI

View all 126 images

Clpp^{tm1a(EUCOMM)Wtsi}
decreased body size, decreased body length, HOM, Female, WTSI

Clpp^{tm1a(EUCOMM)Wtsi}
decreased body length, decreased body size, HOM, Female, WTSI

Clpp^{tm1a(EUCOMM)Wtsi}
abnormal coat/hair pigmentation, WT, Female, WTSI

Clpp^{tm1a(EUCOMM)Wtsi}
decreased body size, decreased body length, HOM, Female, WTSI

View all 9 images

Clpp^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Male, WTSI

Clpp^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Female, WTSI

Clpp^{tm1a(EUCOMM)Wtsi}
abnormal placement of pupils, HOM, Male, WTSI

Clpp^{tm1a(EUCOMM)Wtsi}
mydriasis, HOM, Female, WTSI

Clpp^{tm1a(EUCOMM)Wtsi}
abnormal cornea morphology, HOM, Male, WTSI

Human diseases caused by Clpp 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 Clpp (1 diseases)
Human diseases predicted to be associated with Clpp (1374 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Perrault Syndrome 3		Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129

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

Disease	Matching phenotypes	Source
Spermatogenic Failure 57	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i...	OMIM:619528
Spermatogenic Failure 50	Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619145
Spermatogenic Failure 73	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619646
Spermatogenic Failure 74	Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:619937
Spermatogenic Failure 32	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:618115
Spermatogenic Failure 71	Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility	OMIM:619831
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis, Multicentric femoral head ossification, Delayed femoral head ossification, Limited ...	ORPHA:168621
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt...	OMIM:614470
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility	OMIM:619672
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Immunodeficiency 15B	Monocytosis, Failure to thrive, Reduced natural killer cell count	OMIM:615592
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblasti...	ORPHA:486
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia...	OMIM:610539
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia, Fava bean-induced hemolytic anemia	OMIM:618660
Isochromosomy Yq	Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ...	ORPHA:98798
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Spermatogenic Failure 20	Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility	OMIM:617593
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
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
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg...	OMIM:616050
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Increased mean corpuscular hem...	ORPHA:90041
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 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Sple...	OMIM:612526
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Infantile Sialic Acid Storage Disease	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, Failure to thrive	OMIM:269920
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, El...	OMIM:615559
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Salmonella osteomyelitis, Hypoalbumi...	OMIM:209950
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 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 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Osteo...	OMIM:614727
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment, Radioulnar synostosis	ORPHA:71289
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
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Forsythe-Wakeling Syndrome	Osteoporosis, Low-set ears, Decreased body weight, Macrotia, Thrombocytopenia	OMIM:613606
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo...	ORPHA:507
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Clonus, Hypertonia, Hypocalcemia, Increased bone mineral density, F...	OMIM:259720
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	OMIM:603553
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hyperbiliru...	OMIM:620010
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo...	OMIM:615703
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size, Gait disturbance	ORPHA:1875
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Spermatogenic Failure 42	Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic...	OMIM:618745
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Spermatogenic Failure 11	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:620196
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Spastic tetraplegia, Anemia, Hypertonia, Dystonia, Thrombocytopenia	OMIM:619302
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Decreased nerve conduction velocity, Babinski sign, Acute myelomonocytic le...	OMIM:159550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly	OMIM:618982
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Wolcott-Rallison Syndrome	Hyponatremia, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Iron deficiency anemi...	ORPHA:1667
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hy...	OMIM:612541
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th...	OMIM:229050
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility	OMIM:261550
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Spastic tetraplegia, Hypertonia, Dystonia, Thrombocytopenia	OMIM:619301
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoglycemia, Cryptorchidism, Sensorineural hearing impairment, Hyp...	OMIM:617575
Galactokinase Deficiency	Speech apraxia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestat...	ORPHA:79237
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Hyperprolactinemia	Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, EEG abnormality...	OMIM:612126
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia	ORPHA:276183
Glycogen Storage Disease Vi	Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero...	OMIM:232700
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility, Ataxia	OMIM:613909
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma	OMIM:618840
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Obesity Due To Congenital Leptin Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:66628
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Dystonia, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis,...	ORPHA:289916
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Hypoalbum...	OMIM:277900
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Small for gestational age, Anemia of inadequate production, An...	OMIM:224120
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Ketotic h...	ORPHA:79240
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Dystonia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Choreoathetosis, Neutropenia, Fail...	ORPHA:79312
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ...	OMIM:618048
Cog4-Cdg	Ataxia, Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia,...	ORPHA:263501
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Fem...	ORPHA:432
Spermatogenic Failure 17	Male infertility	OMIM:617214
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:179494
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Paraparesis, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Choreo...	ORPHA:27
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar...	OMIM:614841
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Failure to thrive	OMIM:269840
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated e...	OMIM:617475
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne...	OMIM:618892
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio...	ORPHA:3240
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone...	ORPHA:848
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El...	OMIM:210250
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hypoglycemia, Dysmenorrhea, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Failure to...	OMIM:615285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Immunodeficiency 43	Lung abscess, Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, B lymphocytopeni...	OMIM:241600
Crigler-Najjar Syndrome Type 1	Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hearing impairment	ORPHA:79234
Propionic Acidemia	Pancytopenia, Dystonia, Hypoglycemia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:606054
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Diabetes mellitus, Obesity	OMIM:608320
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Immunodeficiency 104	Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia	OMIM:608971
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Increased T cell count, Failure to thrive, Increased B cell count	ORPHA:98813
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Dystonia, Thrombocytopenia	OMIM:615010
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Dna2-Related Mitochondrial Dna Deletion Syndrome	Slender build, Decreased mitochondrial number, Gait disturbance, Difficulty walking	ORPHA:352470
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, EEG abnorm...	OMIM:617021
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Low-set e...	OMIM:608104
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Aicardi-Goutieres Syndrome 3	Spasticity, Dystonia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Decreased testicular size,...	OMIM:601815
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Anemia	ORPHA:100024
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Congenital Bile Acid Synthesis Defect Type 2	Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Rickets, Steatorrhea, Hyperbilirubin...	ORPHA:79303
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529808
Kennedy Disease	Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Testicula...	ORPHA:481
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impa...	ORPHA:529799
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Osteomyelitis, Facial palsy, Craniosynostosis, Thro...	OMIM:259700
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Hyperhomocystinemia, ...	OMIM:614857
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of...	ORPHA:231222
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Spasticity, Failure to thrive, Thrombocytopenia, Hearing impairment	ORPHA:67048
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility	OMIM:619013
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly...	ORPHA:822
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Abnormality of neutrophils, Thrombocyto...	ORPHA:229717
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Ataxia, Cryptorchidism, Hypogonadism, Neonatal hyperbilirubinemia	ORPHA:3363
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Sensorineural hearing impairment, Radioulnar synostosis, Joint cont...	OMIM:194350
46,Xx Gonadal Dysgenesis	Streak ovary, Ataxia, Premature ovarian insufficiency, Increased circulating gonadotropin level, ...	ORPHA:243
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Subacute Inflammatory Demyelinating Polyneuropathy	Decreased motor nerve conduction velocity, Limitation of movement at ankles, Decreased sensory ne...	ORPHA:206594
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy, Loss of ambulatio...	OMIM:619518
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion...	ORPHA:90362
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, ...	OMIM:598500
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Failure to thrive, Ataxia, ...	ORPHA:14
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased...	OMIM:615513
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas...	OMIM:611548
Graft Versus Host Disease	Fasciitis, Dupuytren contracture, Lipodystrophy, Limited elbow movement, Limited shoulder movemen...	ORPHA:39812
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Hypercholesterolemia, Diabetes mellitus, Adipose tissue loss...	ORPHA:528
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating ferritin concentr...	ORPHA:158048
Classic Galactosemia	Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur...	ORPHA:79239
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Hypertonia, Myoclonus, Failure to thrive, Anemia	OMIM:610090
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia	OMIM:616744
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Hemochromatosis, Type 4	Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Oste...	OMIM:606069
Bleeding Disorder, Platelet-Type, 19	Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:618841
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Ataxia, Elevated circulating creatine kinase co...	OMIM:615673
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Radial club hand, Thrombocytopenia, C...	OMIM:617053
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Failure to thrive, Thrombocytop...	OMIM:615085
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Sensorineural hearing impairment, Giant platelets, Macrothrombocytope...	OMIM:155100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,...	OMIM:613845
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia, Tremor, Abno...	OMIM:212065
Rhabdoid Tumor	Cerebral palsy, Hypercalcemia, Weight loss, Anemia, Hemiplegia, Thrombocytopenia	ORPHA:69077
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Edinburgh Malformation Syndrome	Failure to thrive, Neonatal hyperbilirubinemia	OMIM:129850
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased motor nerve conduction velocity, Hypercholesterolemia, Hypoalbuminemia, Ataxia	OMIM:607250
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Sensorineural h...	ORPHA:540
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia...	OMIM:617591
Cystic Echinococcosis	Eosinophilia, Abscess, Abnormality of the testis size, Bone cyst, Weight loss, Hyperbilirubinemia...	ORPHA:400
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Secondary amenorrhea	OMIM:301033
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Sensorineural hearing impairment, Hydrocele testis, Anemia, Radioulnar synostosis, Neutropenia, C...	OMIM:616738
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Splenomegaly, Glucose intolerance, Anemia	ORPHA:75563
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Preeclampsia	Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia, Type ...	ORPHA:275555
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Limb ataxia...	OMIM:208920
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Sensorineural hearing impairment, Neutropen...	ORPHA:47
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia...	OMIM:251880
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Sensorineural hearing impairment, Macrothrombocytopenia, Menorrhagia, Impaired platelet aggregati...	OMIM:124900
Hsd10 Mitochondrial Disease	Choreoathetosis, Abnormal mitochondrial morphology	OMIM:300438
Overlap Myositis	Diabetes mellitus, Elevated circulating creatine kinase concentration, Leukopenia, Arthritis, Abn...	ORPHA:206572
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
Hemochromatosis, Type 2B	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Seco...	OMIM:613313
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Clumsiness	ORPHA:488650
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Increased mitochondrial number	ORPHA:457050
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Spastic dysarthria, Hypercholesterolemia, Hypoalbuminemia, Ataxia	ORPHA:94124
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Dystonia, Anisocytosis, Leukocytosis, Tetra...	OMIM:618278
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc...	OMIM:604290
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Optic disc pallor, Facial palsy, Recurrent fract...	OMIM:611490
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno...	ORPHA:330015
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab...	OMIM:194072
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hypoglycemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, F...	OMIM:251000
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy, Lymphocytosis, Hearing impairment	ORPHA:79087
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Alg12-Cdg	Hyponatremia, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impairment, Abnorm...	ORPHA:79324
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissu...	ORPHA:79277
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Cholesteryl Ester Storage Disease	Splenomegaly, Hypertriglyceridemia, Hypercholesterolemia	ORPHA:75234
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Atelis Syndrome 1	Anemia, Leukopenia, Hypertonia, Microtia, Thrombocytopenia	OMIM:620184
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Maturity-onset diabete...	OMIM:616222
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa...	OMIM:144300
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Flexion contracture, Hypertonia, Camptodactyly, Failure to thrive	OMIM:604273
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Congenital sensorineural hearing impairment, Sensorineur...	ORPHA:73272
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoarthritis, Osteoporosis, Obesity, Hyperostosis frontalis interna, Hyperur...	ORPHA:77296
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Bone marrow hypocellularity, Low-set ears, Thrombocytopenia	OMIM:618116
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm...	OMIM:619151
Babesiosis	Hemolytic anemia, Splenomegaly, Limitation of joint mobility, Leukopenia, Thrombocytopenia	ORPHA:108
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B...	OMIM:231095
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia	OMIM:620365
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Conjugated hyperbilirubinemia, Low-set ears, Arthrogryposis multiplex ...	OMIM:208085
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Sensorineural ...	OMIM:611762
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Failure to thrive, Hypocholest...	OMIM:607765
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis, Hyperglycemia	ORPHA:90065
Felty Syndrome	Splenomegaly, Cellulitis, Limitation of joint mobility, Osteolysis, Synovitis, Weight loss, Anemi...	ORPHA:47612
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Obstructive azoospermia	OMIM:301060
Thyrocerebrorenal Syndrome	Sensorineural hearing impairment, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Th...	ORPHA:3327
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Testicular atrophy, Decreased fertility	OMIM:313200
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, P...	ORPHA:494444
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Flexion contracture, Optic atrophy, Anemia, Leukopenia, Hypoalbuminemia, Bone marro...	OMIM:617303
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Failure to thrive	OMIM:211600
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Bo...	OMIM:301078
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Spastic tetraparesis, Osteoporosis, Spastic tetraplegia, Spastic diplegia, Hepa...	OMIM:619487
Cinca Syndrome	Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ...	ORPHA:1451
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Hypoglycemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis...	ORPHA:79259
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos...	OMIM:308700
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Abnormal sensory nerve conduction vel...	ORPHA:276435
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Arthritis, B lymphocytopenia, Failure to thrive secondary to recurrent infecti...	OMIM:601457
Alg8-Cdg	Hyponatremia, Abnormality of subcutaneous fat tissue, Small for gestational age, Ataxia, Optic at...	ORPHA:79325
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Ataxia-Telangiectasia	Tremor, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thymus, Intent...	OMIM:208900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive megaloblastic anemia, Crypto...	OMIM:249270
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Congenital Toxoplasmosis	Thrombocytopenia, Failure to thrive in infancy, Anemia, Hearing impairment	ORPHA:858
Spastic Paraplegia Type 7	Abnormal mitochondrial morphology, Spastic gait	ORPHA:99013
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic...	OMIM:611881
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Aicardi-Goutieres Syndrome 4	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-set ears, Dystonia, Spasticity, Thrombocytopenia	OMIM:610333
Rapidly Involuting Congenital Hemangioma	Lipoatrophy, Thrombocytopenia	ORPHA:141184
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensorineural hearing impa...	OMIM:617872
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia	ORPHA:90060
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Joint hypermobil...	OMIM:300972
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto...	ORPHA:3261
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Bone marrow hypocellularity...	OMIM:616435
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Gaucher Disease, Type Iii	Pancytopenia, Ataxia, Splenomegaly, Myoclonus, Decreased body weight, Spastic paraparesis, Thromb...	OMIM:231000
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con...	OMIM:613179
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Sengers Syndrome	Osteopenia, Premature ovarian insufficiency, Thrombocytopenia	OMIM:212350
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea	OMIM:235555
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy...	OMIM:169400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Incoordination, Small for gestational age, Megaloblastic an...	OMIM:277380
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Osteomyelitis, Failure to thrive in infancy, Cachexia, Autoimmune th...	ORPHA:37042
Griscelli Syndrome	Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Bone marrow hypocellularity, Spasti...	ORPHA:381
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Obesity, Poor fine motor coordination, Hypercholesterolemia...	ORPHA:254531
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula...	ORPHA:99429
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Ataxia-Telangiectasia	Lymphopenia, Diabetes mellitus, Ataxia, Tremor, Type II diabetes mellitus, Spasticity, Failure to...	ORPHA:100
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Paralysis, Leukocytosis, Abnormal autonomic nervous system physiology, Thrombocytop...	ORPHA:83601
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog...	OMIM:308750
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Aicardi-Goutieres Syndrome 5	Spasticity, Flexion contracture, Thrombocytopenia	OMIM:612952
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Thr...	OMIM:254900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte...	OMIM:600501
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impairment, Acute le...	ORPHA:3226
Lipoyltransferase 1 Deficiency	Spastic tetraparesis, Hyperglutaminemia, Hyperprolinemia, Abnormality of extrapyramidal motor fun...	OMIM:616299
Hereditary Methemoglobinemia	Small for gestational age, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity,...	ORPHA:621
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Increased circulating antibo...	ORPHA:169160
Bardet-Biedl Syndrome	Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism	ORPHA:110
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Hypoglycemia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertoni...	OMIM:617710
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Failure to thrive, Lymphopenia, B lymphocytopenia	ORPHA:277
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Neonatal hypoglycemia, Tremor, Flexion contracture, Opisthotonus, Choreoathetos...	OMIM:616271
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Elevated circulating creatine kinase concentration, Craniosynostosis, ...	OMIM:301056
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Hypoalbuminemia	OMIM:620357
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Megaloblastic anemia, Sensorineural hearing impairment, Optic atrophy, Thrombo...	ORPHA:49827
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H...	ORPHA:811
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Inguinal hernia, Small for gestational ...	OMIM:613658
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Cryptorchidism, Sensorineural hearing impairment, Limitation of joint mobility, Hypertoni...	ORPHA:1192
Cockayne Syndrome Type 1	Lower limb spasticity, Absent brainstem auditory responses, Foot joint contracture, Scarring, Ata...	ORPHA:90321
Bacterial Toxic-Shock Syndrome	Fasciitis, Osteomyelitis, Abscess, Elevated circulating creatine kinase concentration, Elevated c...	ORPHA:36234
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto...	OMIM:616959
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis...	OMIM:607330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Thrombocytopenia, Abnormal...	ORPHA:79124
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Ca...	OMIM:248370
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Sensorineural hearing impairment, EEG abnormality, Hypertonia, Spasticity, Failure to thrive, Thr...	OMIM:616577
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Abnormal glucose homeostasis, Neutropenia,...	ORPHA:391673
Satoyoshi Syndrome	Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of...	ORPHA:3130
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal...	ORPHA:824
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Azoosp...	OMIM:602390
Bleeding Disorder, Platelet-Type, 20	Menorrhagia, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Menorrhagia, Thrombocytopenia	OMIM:613554
Autosomal Dominant Spastic Paraplegia Type 29	Clonus, Hiatus hernia, Babinski sign, Hyperbilirubinemia, Hernia, Hearing impairment	ORPHA:101009
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Bachmann-Bupp Syndrome	Lower limb spasticity, Hypoglycemia, Large for gestational age, Cryptorchidism, Sensorineural hea...	OMIM:619075
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytos...	OMIM:608885
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni...	OMIM:251100
Progressive Multifocal Leukoencephalopathy	Weakness due to upper motor neuron dysfunction, Parkinsonism, Decreased proportion of CD8-positiv...	ORPHA:217260
Immunodeficiency 68	Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count	OMIM:612260
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Leukocytosis, Elevated circulating C-reactive protein concentration, Hearing impairment	OMIM:120100
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly	OMIM:618261
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Frontotemporal Dementia With Motor Neuron Disease	Progressive cerebellar ataxia, Abnormal mitochondrial morphology	ORPHA:275872
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Failu...	OMIM:251110
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco...	OMIM:227810
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Tularemia	Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess	ORPHA:3392
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Clonus, Spastic tetraparesis, Sensorineural hearing impairment, Babinski sign,...	ORPHA:423479
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Thrombocytopenia, Hyperlipidemia, Hemiparesis, Decr...	ORPHA:1830
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Sneddon Syndrome	Facial palsy, Tremor, Atrophic scars, Hemiplegia, Lymphopenia	OMIM:182410
Thyrocerebroretinal Syndrome	Ataxia, Sensorineural hearing impairment, Slurred speech, Myoclonus, Thrombocytopenia	OMIM:274240
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Oligoarthritis, T lymphocytopenia, Decreased proportion of CD4-posi...	OMIM:619510
Cortisone Reductase Deficiency 1	Acne, Precocious puberty, Obesity, Infertility, Oligomenorrhea	OMIM:604931
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Hearing impairment, T...	OMIM:617052
Muckle-Wells Syndrome	Progressive sensorineural hearing impairment, Leukocytosis, Elevated circulating C-reactive prote...	OMIM:191900
Hepatic Veno-Occlusive Disease	Increased body weight, Increased total bilirubin	ORPHA:890
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Optic atrophy, Hyperbilirubinemia, Failure to thrive, Polycy...	OMIM:606812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Abnormal circulating selenium concentration, Decreased serum iron, Flexion con...	ORPHA:89842
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, O...	OMIM:222700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis	OMIM:152700
Candidiasis, Familial, 1	Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Neutropenia, Thrombocy...	ORPHA:520
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Camptodactyly	OMIM:619751
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Splenomegaly, Increased circul...	ORPHA:465508
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Congenital Rubella Syndrome	Splenomegaly, Sensorineural hearing impairment, Spastic diplegia, Anemia, Type I diabetes mellitu...	ORPHA:290
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T...	OMIM:616267
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh...	OMIM:231200
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi...	ORPHA:167
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Arthritis, Coombs-positive hemolytic anemia, N...	OMIM:304790
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:611926
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Sensorineural hear...	OMIM:222300
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Multiple joint contractures, Premature ovarian insufficiency, Lack of facial subcutan...	ORPHA:2959
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Moyamoya Disease 6 With Or Without Achalasia	Hemiparesis, Impotence, Thrombocytopenia	OMIM:615750
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Hjv Or Hamp-Related Hemochromatosis	Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,...	ORPHA:79230
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Caroli Syndrome	Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilir...	ORPHA:480520
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Cryptorchidism, Obesity, Poor fi...	ORPHA:96184
Ravine Syndrome	Ataxia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure to thrive	ORPHA:99852
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ...	OMIM:610163
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei...	OMIM:617099
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa...	ORPHA:210136
Hijazi-Reis Syndrome	Ankle clonus, Lower limb spasticity, Hyperbilirubinemia	OMIM:301094
Combined Oxidative Phosphorylation Deficiency 14	Anemia, EEG abnormality, Myoclonus, Elevated hepatic iron concentration, Thrombocytopenia, Hearin...	OMIM:614946
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Abnormal mitochondrial shape, Ataxia, Gait ataxia, Ambiguous genitalia, Failure to thrive, Clitor...	ORPHA:543470
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Failure to thrive,...	OMIM:300400
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno...	ORPHA:77259
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Small for gestational age, Bilateral cryptorchidism, Thrombocytopenia, ...	OMIM:242900
Wilson Disease	Abnormality of the menstrual cycle, Splenomegaly, Increased body weight, Weight loss, Anemia, Clu...	ORPHA:905
Tick-Borne Encephalitis	Speech apraxia, Incoordination, Stiff neck, Facial palsy, Elevated circulating C-reactive protein...	ORPHA:297
Laron Syndrome	Hypercholesterolemia, Osteoarthritis, Hypoglycemia, Truncal obesity	ORPHA:633
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Decreased lymphocyte proliferation...	OMIM:606367
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Fa...	OMIM:614520
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Alg6-Cdg	Ataxia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Low-set ears, Failure to thrive	ORPHA:79320
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Tremor, Macrotia, Hyperhomocysti...	OMIM:277400
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	High-frequency sensorineural hearing impairment, Tremor, Sensorineural hearing impairment, Flexio...	ORPHA:2590
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Increased mitochondrial number, Decreased activity of mitochondrial complex I, Dysmetria	OMIM:615578
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Posteriorly rotated ears, Cryptorchidism, Anemia, Microt...	ORPHA:163979
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Spinocerebellar Ataxia 34	Ataxia, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma, Intention tremor	OMIM:133190
Stt3B-Cdg	Cryptorchidism, Failure to thrive, Optic atrophy, Thrombocytopenia	ORPHA:370924
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Cryptorchidism, Osteoporosis, Leukopenia, Bone marrow hypo...	OMIM:613990
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Failure to thrive, Optic atrophy, Thrombocytopenia	OMIM:615597
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype...	ORPHA:247585
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Hypergonadotropic hypogonadism	ORPHA:352447
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Idiopathic Congenital Hypothyroidism	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Neonatal hyperbilirubinemia	ORPHA:95717
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion...	ORPHA:85212
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P...	OMIM:260400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Smith-Magenis Syndrome	Hypertriglyceridemia, Increased body weight, EEG abnormality, Hypercholesterolemia, Hearing impai...	OMIM:182290
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Goiter	OMIM:617577
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Conductive hearing impairment...	ORPHA:443811
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cellulitis, Decreased eosinophil count, Lymphopenia, Tooth ...	ORPHA:2686
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ...	OMIM:613839
Liver Disease, Severe Congenital	Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia, Joint...	OMIM:619991
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Spastic paraplegia, Hepatosp...	ORPHA:168577
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Acyl-Coa Dehydrogenase 9 Deficiency	Nonketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrea...	ORPHA:99901
Immunodeficiency 22	Abscess, Anemia, Panniculitis, Decreased proportion of CD4-positive helper T cells, Failure to th...	OMIM:615758
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Ataxia, Thrombocytopenia, Weight loss	ORPHA:79242
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Vexas Syndrome	Macrocytic anemia, Chondritis of pinna, Elevated circulating C-reactive protein concentration, Se...	OMIM:301054
Caroli Disease	Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abnormal c...	ORPHA:53035
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Secondary amenorrhea, Elevated circulating follic...	OMIM:619938
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre...	ORPHA:3464
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co...	OMIM:235200
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Sensorineural hearing impairment, T lymphocytopenia, B lymphocytopenia, Low-set ears, Abnormal na...	OMIM:615966
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Sensorineural hearing impairment, Failure to thrive, Absent circulating B cells	OMIM:619693
Myh9-Related Disease	Increased mean platelet volume, Sensorineural hearing impairment, Giant platelets, Neutrophil inc...	ORPHA:182050
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly, Failure to thrive	OMIM:601847
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Impaired T cell function, Tremor, Hypogonadism, Lethargy, Decreased serum testosterone co...	OMIM:201100
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Congenital Disorder Of Glycosylation, Type Ie	Ataxia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Tremor, Sp...	OMIM:608799
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio...	ORPHA:94093
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Flexion contracture, Optic atrophy, Hepatosplenomegaly, Anemia, Leukopenia, Hypo...	ORPHA:505248
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Decrea...	OMIM:214500
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Snakebite Envenomation	Hyponatremia, Paralysis, Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia	ORPHA:449285
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili...	OMIM:617237
Netherton Syndrome	Failure to thrive, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating Ig...	OMIM:256500
Spermatogenic Failure 6	Globozoospermia, Decreased acrosin in sperm head, Male infertility	OMIM:102530
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone marrow hyp...	ORPHA:508542
Sialidosis Type 2	Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Umbilical herni...	ORPHA:87876
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Premature ovarian insufficiency, Decreased ci...	ORPHA:199299
Reynolds Syndrome	Calcinosis, Splenomegaly, Hyperbilirubinemia, Steatorrhea, Lymphopenia	OMIM:613471
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Optic atrophy, En...	OMIM:614576
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v...	OMIM:127550
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Low-set, posteriorly rotated ears, Microcytic anemia, Cryptorchidism, Flexion contracture, Aplasi...	ORPHA:98791
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Optic atrophy, Hyperammonemia, Neutropenia, Spasticity, ...	OMIM:618253
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto...	OMIM:617718
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia, Hearing impairment	OMIM:618349
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Sensorineural hearing impairment, Umbilical her...	ORPHA:95716
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Failure to thrive, Hyperbilirubinemia, Steatorrhea	OMIM:613812
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia...	OMIM:613989
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Abnormal cortical bone morphology, Hype...	OMIM:614886
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren...	OMIM:618131
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Sensorineur...	OMIM:617093
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Small for gestational age, Elevated circulating creatine kinase concentration, Normo...	OMIM:618775
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,...	ORPHA:99027
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,...	ORPHA:363400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Cryptorchidism, Sensorine...	OMIM:614866
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri...	OMIM:246700
Degcags Syndrome	Osteopenia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, Congenital hypoplastic anem...	OMIM:619488
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Persistence of hemoglobin F, Increased mean corpusc...	OMIM:300946
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Keratoconjunctivitis sicca, Hypogonadism, Erythroderma, Decreased circ...	OMIM:601675
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous...	OMIM:608800
Smith-Kingsmore Syndrome	Hypoglycemia, Large for gestational age, Cryptorchidism, Umbilical hernia, Thrombocytopenia	OMIM:616638
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Iron defici...	OMIM:301074
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractures, Conductive...	ORPHA:2785
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ataxia, Anemia, Hypertonia, Bone marrow hypocellularity, Failure t...	ORPHA:3322
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Decreased activity of ...	OMIM:500013
Shigellosis	Hyponatremia, Failure to thrive in infancy, Abscess, Hypoglycemia, Leukocytosis, Abnormal blood i...	ORPHA:810
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Beemer-Ertbruggen Syndrome	Low-set, posteriorly rotated ears, Cryptorchidism, Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration,...	OMIM:607426
Sepsis In Premature Infants	Small for gestational age, Elevated circulating C-reactive protein concentration, Splenomegaly, L...	ORPHA:90051
Immunodeficiency 54	Splenomegaly, Failure to thrive, Reduced natural killer cell count	OMIM:609981
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Progressive hearing impairment, Lymphocytosi...	ORPHA:514
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Clonus, Protruding ear, Hyponatremia, Low-set, posteriorly rotated ears, Abnormal ...	ORPHA:534
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto...	OMIM:227650
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Tremor, Osteoporosis, Abnormal pyramidal sign, Optic atrophy, Increased susce...	OMIM:612199
Ciliary Dyskinesia, Primary, 9	Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Recurrent sinusitis, Chron...	OMIM:612444
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive...	ORPHA:79396
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Spastic Paraplegia 29, Autosomal Dominant	Lower limb spasticity, Clonus, Hiatus hernia, Sensorineural hearing impairment, Spastic paraplegi...	OMIM:609727
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Sensorineural hearing impairment, EEG with frontal sharp slow waves, Hypsarrhythmia, EEG abnormal...	ORPHA:457351
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se...	ORPHA:206484
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Hyperammonemia, EEG abnormality, Hyperuricemia, Myoclonus, Spasticity, Anemia	OMIM:246450
Lig4 Syndrome	Pancytopenia, Small for gestational age, Cryptorchidism, Acute lymphoblastic leukemia, Type II di...	OMIM:606593
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Braddock-Carey Syndrome 2	Atresia of the external auditory canal, Thrombocytopenia, Hearing impairment	OMIM:619981
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Pityriasis Rubra Pilaris	Pruritus, Pustule, Eczema, Erythroderma	ORPHA:2897
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis...	ORPHA:1304
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Ataxia, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Weight loss, ...	ORPHA:20
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Posteriorly rotated ears, Elevated circulating creatine kinase concentra...	OMIM:608836
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Progressive sensorineural hearing imp...	OMIM:125250
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Congenital Ichthyosiform Erythroderma	Keratitis, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive	ORPHA:79394
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Ichthyosis With Confetti	Pruritus, Decreased body weight, Hypoplastic nipples, Erythroderma	OMIM:609165
Müllerian Aplasia And Hyperandrogenism	Acne, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, ...	ORPHA:247768
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
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
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ...	OMIM:617443
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Ataxia, Hypogly...	ORPHA:3008
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased susceptibility to fractures, Neutropenia, Lymphopenia, Reduced natural killer cell coun...	OMIM:619752
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Gaucher Disease	Osteopenia, Increased bone mineral density, Pancytopenia, Ataxia, Recurrent fractures, Elevated c...	ORPHA:355
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Failure to thrive in infancy, Posteriorly rotated ears, Cryptorchidism, Giant platele...	OMIM:611209
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating...	ORPHA:314478
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
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Pediatric-Onset Graves Disease	Craniosynostosis, Tremor, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Hyp...	ORPHA:525731
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Ataxia, Sensorineural hearing impairment, Protruding ear, EEG abnormality, Joint hype...	ORPHA:2479
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenor...	OMIM:157640
Dystonia-Aphonia Syndrome	Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Gait disturbance, Oromandibula...	ORPHA:412217
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Castleman Disease	Myelofibrosis, Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Decrea...	ORPHA:160
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Sézary Syndrome	Pruritus, Abnormal immunoglobulin level, Tremor, Erythroderma	ORPHA:3162
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Lujo Hemorrhagic Fever	Resting tremor, Stiff neck, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:319213
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Braddock-Carey Syndrome 1	Posteriorly rotated ears, Spastic diplegia, Camptodactyly, Enamel hypoplasia, Macrotia, Thrombocy...	OMIM:619980
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Flexion ...	OMIM:227645
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Sensorineural hearin...	ORPHA:52368
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Palmoplantar hyperhidrosis, Erythroderma	OMIM:270300
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Obesity, EEG abnormality, Co...	ORPHA:819
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti...	ORPHA:139402
Beta-Ketothiolase Deficiency	Ataxia, Hypoglycemia, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Extrapyramidal dy...	ORPHA:134
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo...	OMIM:600901
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level	ORPHA:95715
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:2902
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Pediatric Systemic Lupus Erythematosus	Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Hemiplegia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Ciliary Dyskinesia, Primary, 45	Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity	ORPHA:98827
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Splenomegaly, B...	ORPHA:309854
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Ataxia, Hypoglycemia, Progressive hearing...	OMIM:616113
Adult-Onset Still Disease	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:829
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Hypoglycemia, Megaloblastic anemia, Optic atro...	ORPHA:79282
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Gait ataxia, Keratoconjunctivitis si...	ORPHA:33364
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Clumsiness, Increased LDL cholesterol concentration, Xan...	OMIM:277460
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Abnormality of the peripheral nervous system, Leukocytosis, Hype...	ORPHA:542643
Omenn Syndrome	Pneumonia, Pruritus, Thyroiditis, Erythroderma, Failure to thrive, Hypothyroidism	ORPHA:39041
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc...	OMIM:615688
Netherton Syndrome	Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro...	ORPHA:634
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Neuhauser Syndrome	Osteopenia, Ataxia, Poor coordination, Cupped ear, Large fleshy ears, Hypercholesterolemia	OMIM:249310
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Cupped ear, Limb ataxia, Persistence of hemoglobin F, Low-set ears, Truncal ataxia, Overfolded he...	OMIM:617101
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Hypoglycemic seizures, Obesity, Hyperbilirubinemia	OMIM:609734
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia, Low-set ears, Glycosuria, Arthrogryposis multiplex congenita, Fail...	OMIM:613404
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Thrombocytopenia, Spastic diplegia, Increased mean platelet volume	OMIM:300048
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypercholesterolemia, Delayed proximal femoral epiphyseal ossification, Clumsi...	ORPHA:90674
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi...	OMIM:243700
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Decreased p...	ORPHA:331235
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia, Opisthotonus	OMIM:619685
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Low-set ears	OMIM:242860
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia	ORPHA:48
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Pseudo-Torch Syndrome 1	Splenomegaly, Low-set ears, Dystonia, Umbilical hernia, Spasticity, Failure to thrive, Thrombocyt...	OMIM:251290
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece...	ORPHA:276
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Synostosis of carpal bones, Thrombocytopeni...	ORPHA:2307
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to thrive, Thrombocytopenia	ORPHA:90045
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy, Decreased circulating antibody level	OMIM:618165
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Anemia, Hypoalbuminemia, Low-set ears, Subcutaneous lipoma	ORPHA:79076
Arthrogryposis, Distal, Type 2A	Hip contracture, Inguinal hernia, Flexion contracture of finger, Failure to thrive, Shoulder flex...	OMIM:193700
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta	OMIM:612783
Ogden Syndrome	Inguinal hernia, Torticollis, Maternal diabetes, Cryptorchidism, Protruding ear, Hydrocele testis...	OMIM:300855
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Farber Disease	Paraparesis, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Myoclonus,...	ORPHA:333
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Low-set ears, ...	OMIM:606003
Fanconi Anemia, Complementation Group F	Cryptorchidism, Anemia, Leukopenia, Microtia, Bone marrow hypocellularity, Conductive hearing imp...	OMIM:603467
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto...	ORPHA:36238
Hardikar Syndrome	Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Mild hearing impairment, Hyperbili...	OMIM:301068
Barth Syndrome	Failure to thrive, Gait disturbance, Abnormal mitochondrial morphology	OMIM:302060
Alg1-Cdg	Limitation of joint mobility, Hypoalbuminemia	ORPHA:79327
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Cryptorchidism, Neutropenia, Macrotia, Neonatal hyperbilir...	ORPHA:163956
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Posteriorly rotated ears, Decreased CD4:CD8 ratio, Splenomegaly, ...	OMIM:608233
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Weigh...	ORPHA:171
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration	OMIM:614204
Ciliary Dyskinesia, Primary, 36, X-Linked	Chronic otitis media, Male infertility, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Adams-Oliver Syndrome	Hemiparesis, Leukopenia, EEG abnormality, Hypertonia, Failure to thrive, Thrombocytopenia	ORPHA:974
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Poor coordination, Optic ...	OMIM:610965
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Ataxia, Optic nerve hypoplasia, Abnormal T cell subset distribution, Protruding ear, ...	ORPHA:221139
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Atypical scarring of sk...	OMIM:263700
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia...	OMIM:612561
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Ovarian serous cystadenoma, Seborrheic dermatitis	ORPHA:276280
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased ...	ORPHA:206443
Zika Virus Disease	Arthritis, Transient hearing impairment, Abnormal optic disc morphology, Thrombocytopenia	ORPHA:448237
Low Phospholipid-Associated Cholelithiasis	Diabetes mellitus, Liver abscess, Overweight, Obesity, Hypercholesterolemia	ORPHA:69663
Roifman Syndrome	Hypogonadotropic hypogonadism, Eczema, Recurrent pneumonia, Decreased circulating antibody level,...	ORPHA:353298
Autoimmune Hepatitis	Splenomegaly, Arthritis, Increased total bilirubin	ORPHA:2137
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia...	OMIM:612394
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Small for gestational age, Ataxia, Splenomegaly...	ORPHA:699
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual...	ORPHA:906
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Clonus, Hypoglycem...	OMIM:619055
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T cells, Hypereosi...	ORPHA:508533
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Neonatal hypoglycemia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Low-set ears, L...	ORPHA:572798
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Menorrhagia, Thrombocytopenia	OMIM:277480
Lissencephaly Due To Lis1 Mutation	EEG with changes in voltage, Tetraplegia, Opisthotonus, Hypsarrhythmia, Progressive spastic quadr...	ORPHA:95232
Japanese Encephalitis	Decreased motor nerve conduction velocity, Stiff neck, Tremor, Opisthotonus, Choreoathetosis, Hyp...	ORPHA:79139
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Hypospadias, Patent ductus arteriosus, Unsteady gait, Decreased act...	ORPHA:17
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Recurrent pneumonia, Abnormal axonemal organization o...	OMIM:613807
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Limb joint contracture, Elevated circulating creatine kinase concentration, Pa...	OMIM:617013
Saccharopinuria	Tremor, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abnormality of circulatin...	ORPHA:3124
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Se...	OMIM:242150
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Quebec Platelet Disorder	Joint hemorrhage, Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Shwachman-Diamond Syndrome 2	Normocytic anemia, Neutropenia, Low-set ears, Steatorrhea, Failure to thrive, Thrombocytopenia	OMIM:617941
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Ataxia, Erythroderma	OMIM:609180
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesi...	OMIM:300055
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffic...	ORPHA:85138
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Conductive hearing impairment, Abnor...	ORPHA:244
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:170100
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Clonus, Dysmetria, Gait ataxia, Glucose intolerance, Decreased a...	OMIM:606721
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:256040
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Small for gestational age, Ataxia, Abnormal auditory evoked ...	OMIM:133540
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Cryptorchidism, A...	OMIM:620005
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm...	ORPHA:320401
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal...	OMIM:216400
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Muscular Dystrophy, Congenital, Megaconial Type	Waddling gait, Mitochondrial hypertrophy	OMIM:602541
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Autoimmune thr...	ORPHA:77293
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hearing impairment	OMIM:243300
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Splenomegaly, Ankle clonus, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:308230
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Hereditary Chronic Pancreatitis	Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration	ORPHA:676
Intrahepatic Cholestasis Of Pregnancy	Tremor, Increased serum bile acid concentration, Small for gestational age, Hyperbilirubinemia	ORPHA:69665
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Spastic diplegia, T lymphocytopenia, Sclerosis of skull base, Progre...	OMIM:607944
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocytopenia	OMIM:230800
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Arthritis, Mitochondrial swelling	ORPHA:397744
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Mogs-Cdg	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen...	ORPHA:79330
Mpi-Cdg	Failure to thrive, Hypoalbuminemia, Hyperinsulinemic hypoglycemia	ORPHA:79319
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Increa...	OMIM:615846
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Hypertonia, Thrombocytopenia	OMIM:253270
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Elevated circulating C-reactive protein concentration, Elevated c...	ORPHA:91500
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha...	OMIM:614074
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Type II diabetes mellitus	ORPHA:401923
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Sensorineural...	OMIM:605432
Kikuchi-Fujimoto Disease	Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Weight loss, Anemia,...	ORPHA:50918
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi...	OMIM:617156
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia...	OMIM:616881
Transketolase Deficiency	Seborrheic dermatitis, Patent ductus arteriosus, Secondary amenorrhea, Uveitis, Conjunctivitis, T...	ORPHA:488618
Kaposiform Lymphangiomatosis	Metrorrhagia, Splenomegaly, Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Ataxia, Postural tremor, Splenomegaly, Flexion contracture, Babinski sign...	OMIM:301072
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Failure to thrive, Hyperbilirubinemia	OMIM:214950
Fructose-1,6-Bisphosphatase Deficiency	Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperbilirubinemia, ...	ORPHA:348
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Parenteral Nutrition-Associated Cholestasis	Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal ...	ORPHA:567983
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Senior-Boichis Syndrome	Increased total bilirubin, Anemia, Hepatosplenomegaly	ORPHA:84081
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Diabetes mellitus, Scarring, Abnormal erythrocyte e...	ORPHA:101330
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:269700
Gaucher Disease, Perinatal Lethal	Splenomegaly, Hepatosplenomegaly, Anemia, Opisthotonus, Microtia, Low-set ears, Decreased body we...	OMIM:608013
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Inguinal hernia, Thrombocytopenia	ORPHA:96181
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Cryptorchidism, Exaggerated startle response, Patent ductus arteriosus	OMIM:620327
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Sensorineural hearing impairment, Optic atrophy, Hypoalbuminemia, Hyperalaninemia, ...	OMIM:618329
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Cushing Disease	Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso...	ORPHA:96253
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoalbuminemia, Steatorrhea	OMIM:602579
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A...	ORPHA:85450
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A...	ORPHA:2975
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Protruding ear, Hypertonia, Decreased body weight, Intention tremor, Joint laxity, Ataxia...	OMIM:619475
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Facial diplegia, Hypocholesterolemia, Thrombocy...	ORPHA:31150
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hem...	ORPHA:544482
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia	OMIM:619769
Isolated Biliary Atresia	Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Xanthelasma, Severe failu...	ORPHA:30391
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Catastrophic Antiphospholipid Syndrome	Chorea, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocy...	ORPHA:464343
Takenouchi-Kosaki Syndrome	Inguinal hernia, Ataxia, Posteriorly rotated ears, Increased mean platelet volume, Cryptorchidism...	OMIM:616737
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Ovarian Fibroma	Gonadal calcification, Peritonitis, Ovarian fibroma, Abnormality of the ovary	ORPHA:314473
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Diabetes mellitus, Anemia	ORPHA:169105
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Thrombocytopenia	OMIM:611126
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Noonan Syndrome 4	Posteriorly rotated ears, Large for gestational age, Cryptorchidism, Low-set ears, Thickened heli...	OMIM:610733
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ...	OMIM:231100
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Failure to thrive...	OMIM:615895
Gaucher Disease, Type Ii	Rigidity, Splenomegaly, Anemia, Hypertonia, Oculomotor apraxia, Spasticity, Failure to thrive, Th...	OMIM:230900
Cranioectodermal Dysplasia 2	Joint laxity, Inguinal hernia, Craniosynostosis, Splenomegaly, Hyperbilirubinemia, Polysplenia, L...	OMIM:613610
Lamellar Ichthyosis	Chronic otitis media, Pruritus, Erythroderma	ORPHA:313
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi...	ORPHA:169090
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic de...	ORPHA:83617
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Recon Progeroid Syndrome	Attached earlobe, Joint laxity, Anemia, Microtia, Thrombocytopenia	OMIM:620370
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, O...	ORPHA:95409
Tay-Sachs Disease	Exaggerated startle response, Incoordination, Dystonia, Increased serum beta-hexosaminidase, Trem...	ORPHA:845
Lesch-Nyhan Syndrome	Opisthotonus, Choreoathetosis, Dystonia, Podagra, Testicular atrophy	OMIM:300322
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Dopamine Beta-Hydroxylase Deficiency	Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circulating creatinine concen...	ORPHA:230
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, Sensorineural hearin...	ORPHA:847
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, T lymphocytopenia, B lymphocytopeni...	OMIM:251260
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Rheumatoid ...	ORPHA:99867
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Dyskeratosis Congenita	Diabetes mellitus, Recurrent fractures, Abnormality of neutrophils, Hearing impairment, Thrombocy...	ORPHA:1775
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Anemia	OMIM:618182
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti...	OMIM:240500
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature...	ORPHA:125
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Reticulo...	OMIM:227646
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Progressive spastic paraparesis, Hoffmann...	ORPHA:206448
Glycogen Storage Disease Ib	Hypoglycemia, Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia, Neutr...	OMIM:232220
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Acne, Hypospadias, Impaired T cell function, Seborrheic derm...	ORPHA:567
16Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Cryptorchidism, Protruding ear, Increased mean corpuscular volume, Thromb...	ORPHA:261250
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Ataxia, Splenomegaly, Osteolysis, Increased suscept...	ORPHA:77261
Aicardi-Goutieres Syndrome 1	Splenomegaly, Abnormality of extrapyramidal motor function, Dystonia, Spasticity, Thrombocytopenia	OMIM:225750
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hypoglycemia, Neutropenia, Joint contracture, Failure to thrive	OMIM:618005
Distal Xq28 Microduplication Syndrome	Absent antihelix, Microtia, Neonatal hyperbilirubinemia	ORPHA:293939
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Gout, ...	ORPHA:412
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Conjunctivitis, Lethargy	OMIM:253260
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
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla...	ORPHA:84064
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,...	ORPHA:1215
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Obesity, Protruding ear, Anemia, Low-set ears, Thrombocytopenia	OMIM:620072
Galloway-Mowat Syndrome 1	Dystonia, Small for gestational age, Ataxia, Hiatus hernia, Macrotia, Optic atrophy, Spastic tetr...	OMIM:251300
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Aplastic anemia, Hypogonadism, Low-set ears, Overfolded helix, Th...	OMIM:300514
Bathing Suit Ichthyosis	Hypohidrosis, Erythroderma	ORPHA:100976
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Anemia, Microtia, Low-set ears, Camptodactyly, Thrombocytopenia	ORPHA:261323
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Hypercholesterolemia, Osteomalacia, Camptodactyly of finger, Elevated circulat...	OMIM:309000
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Digeorge Syndrome	Acne, Parathyroid agenesis, Impaired T cell function, Seborrheic dermatitis, Decreased circulatin...	OMIM:188400
Leopard Syndrome 1	Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic...	OMIM:151100
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Failure to thrive	OMIM:619484
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Inguinal hernia, Decreased body weight	ORPHA:51890
Vici Syndrome	Failure to thrive, Elevated circulating creatine kinase concentration, Sensorineural hearing impa...	OMIM:242840
Pemphigus Foliaceus	Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Sensorineural hearing impairment, Hypoalbuminemia, Low-set ears, Camptodactyly, C...	OMIM:235510
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Tremor, Abnormal circulating fatty-acid concentration, Hyperinsulinemi...	ORPHA:263455
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Sheehan Syndrome	Hyponatremia, Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Orthost...	ORPHA:91355
Primary Biliary Cholangitis	Orthostatic hypotension, Conjugated hyperbilirubinemia, Osteoporosis, Hypoalbuminemia, Abnormal c...	ORPHA:186
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Bardet-Biedl Syndrome 1	Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Tru...	OMIM:209900
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia, Fasciculations	ORPHA:99965
Lathosterolosis	Anisopoikilocytosis, Abnormal platelet morphology, Myoclonus, Failure to thrive, Thrombocytopenia...	ORPHA:46059
Ciliary Dyskinesia, Primary, 19	Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614935
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,...	OMIM:619260
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Failure to thrive, Opisthotonus, Seborrheic dermatitis	OMIM:210210
Cerebrotendinous Xanthomatosis	Osteopenia, Abnormal pyramidal sign, Abnormal motor evoked potentials, Ataxia, Parkinsonism, Oste...	ORPHA:909
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Decreased circulating t...	OMIM:607594
Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:79456
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Reticular Dysgenesis	Hypoplasia of the thymus, Impaired T cell function, Lack of T cell function	OMIM:267500
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Prostatitis, Anemia, Hearing...	OMIM:300755
Hypothyroidism Due To Tsh Receptor Mutations	Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Increased circulating thyrogl...	ORPHA:90673
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Osteomyelitis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating f...	OMIM:619534
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Joint hypermobility, Hypogl...	OMIM:619418
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Infantile Krabbe Disease	Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve ...	ORPHA:206436
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Glucose intolerance, Hypertonia, Glycosuria, Spas...	OMIM:616539
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spasticity, Choreo...	OMIM:606159
Harlequin Ichthyosis	Erythroderma	ORPHA:457
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, External ear malformation, Thr...	ORPHA:84
Galloway-Mowat Syndrome 7	Hypercholesterolemia	OMIM:618348
Pituitary Hormone Deficiency, Combined, 6	Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia	OMIM:613986
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Extrapyramidal muscular rigidity, Dystonia, Neonatal al...	ORPHA:51
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus...	OMIM:618820
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Mitochondrial Complex I Deficiency, Nuclear Type 29	Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling	OMIM:618250
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Ataxia, Cryptorchidism, Osteoporosis, Optic atrophy, Anemia...	OMIM:305000
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Stevens-Johnson Syndrome	Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Weight loss, Anemia	ORPHA:36426
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,...	ORPHA:101085
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Cryptorchidism, EEG abnormality, Decreased body weight, Throm...	OMIM:619005
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Abnormality of neutrophils, Craniosynostosis, Cryptorchidism, ...	ORPHA:235
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Mitochondrial swelling	OMIM:615595
Atelis Syndrome 2	Hyperinsulinemia, Dysmetria, Protruding ear, Anemia, Low-set ears, Thrombocytopenia	OMIM:620185
Hemorrhagic Fever-Renal Syndrome	Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate...	ORPHA:340
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Abnormal pinna morphology, Optic nerve hy...	OMIM:609069
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	OMIM:249100
Galloway-Mowat Syndrome 3	Hiatus hernia, Hypoalbuminemia, Low-set ears, Camptodactyly, Spasticity, Failure to thrive	OMIM:617729
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Priapism, Increased red cell si...	OMIM:603903
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Optic disc coloboma, Severe sensor...	OMIM:620186
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, Diabetes mellitus, Hypothyroidism	ORPHA:263297
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Cryptorchidism, Sensorineural hearing impairment, Reduced alpha/beta sy...	OMIM:301040
Ichthyosis, Congenital, Autosomal Recessive 9	Hypohidrosis, Erythroderma	OMIM:615023
Blue Rubber Bleb Nevus	Iron deficiency anemia, Pathologic fracture, Thrombocytopenia	OMIM:112200
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr...	OMIM:608594
Nephrotic Syndrome, Type 8	Sensorineural hearing impairment, Hypoalbuminemia	OMIM:615244
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Primary amenorrhea, Dysmetria...	OMIM:617675
Pachydermoperiostosis	Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic dermatitis, Hy...	ORPHA:2796
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Decreased circulating antibody level, Erythroderma	OMIM:617425
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bone mineral density, Osteop...	ORPHA:667
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials	OMIM:617523
Sarcoidosis	Hemolytic anemia, Eosinophilia, Scarring, Hypercalcemia, Facial palsy, Thrombocytopenia, Increase...	ORPHA:797
Tyrosinemia, Type I	Hypertyrosinemia, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Periodic pa...	OMIM:276700
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:158330
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Optic disc pallor, Tre...	OMIM:615512
Deeah Syndrome	Decreased hemoglobin concentration, Neonatal hypoglycemia, Cryptorchidism, EEG abnormality, Low-s...	OMIM:619004
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma	ORPHA:35173
Fetal And Neonatal Alloimmune Thrombocytopenia	Cerebral palsy, Bilateral sensorineural hearing impairment, Neonatal alloimmune thrombocytopenia	ORPHA:853
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Recurrent otitis media, Male infertility	OMIM:618948
12Q14 Microdeletion Syndrome	Diabetes mellitus, Tremor, Abnormality of the spleen, Osteopoikilosis, Failure to thrive	ORPHA:94063
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Broad-based gait, Failure to thrive, Eczema, Seborrheic dermatitis, Obesity, Abnormality of the p...	ORPHA:369950
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Posteriorly rotated ears, Splenomegaly, Cryptorchidism, Epiphyseal stippli...	OMIM:270400
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Erythroderma	OMIM:302960
Urachal Cyst	Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Ichthyosis, Congenital, Autosomal Recessive 6	Hypohidrosis, Erythroderma	OMIM:612281
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocy...	ORPHA:32960
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Hyperhidrosis, Falls, Difficulty walking, Hypoth...	ORPHA:3198
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Systemic Lupus Erythematosus	Hemolytic anemia, Chorea, Leukopenia, Arthritis, Thrombocytopenia	ORPHA:536
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Fused cervical vertebrae, Sensorineural hearing impairment, Th...	ORPHA:3320
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Cupped ear, T lymphocytopenia, Contracture of the proximal interphalangeal...	OMIM:618223
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul...	ORPHA:786
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Low-set ears, ...	OMIM:618183
Primary Sjögren Syndrome	Normocytic anemia, Abnormality of the peripheral nervous system, Chorea, Leukopenia, Normochromic...	ORPHA:289390
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Hypoplasia of the ovary, Decreased testicular size, Abdominal obesity	OMIM:619321
Jacobsen Syndrome	Cryptorchidism, Flexion contracture, Optic atrophy, Low-set ears, Spasticity, Failure to thrive, ...	OMIM:147791
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Hypsarrhythmia, Hypochromic anemia, Thrombocytosis, Spasticity, F...	OMIM:618213
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape	ORPHA:485421
Toxic Epidermal Necrolysis	Thrombocytopenia, Weight loss, Anemia, Neutropenia	ORPHA:537
Monosomy 22	Hyperhidrosis, Micropenis, Aplasia of the thymus, Seborrheic dermatitis	ORPHA:96123
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity	ORPHA:209902
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Cornelia De Lange Syndrome 1	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Abnormal incisura morphology, Cr...	OMIM:122470
Sandhoff Disease	Exaggerated startle response, Ataxia, Hypohidrosis, Hyperhidrosis, Impotence	OMIM:268800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic ...	ORPHA:2072
Rift Valley Fever	Paralysis, Paraparesis, Anemia, Hemiparesis, Decerebrate rigidity, Thrombocytopenia	ORPHA:319251
Q Fever	Osteomyelitis, Splenomegaly, Hepatosplenomegaly, Anemia, Weight loss, Granuloma, Thrombocytopenia	ORPHA:781
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Stiff neck, Elevated circulating creatine kinase concentration, Orchi...	ORPHA:99827
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Patent ductus arteriosus, Hyperhidrosis, Arthritis, Eczematoid dermatitis	OMIM:259100
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Thrombocytopenia-Absent Radius Syndrome	Spina bifida, Seborrheic dermatitis, Pancreatic cysts, Patent ductus arteriosus, Decreased circul...	OMIM:274000
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Copper Deficiency, Familial Benign	Failure to thrive, Seborrheic dermatitis	OMIM:121270
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Low-set ears, Type I diab...	OMIM:619525
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Dpagt1-Cdg	EEG with generalized slow activity, Lipodystrophy, Ataxia, Tremor, Flexion contracture, Osteoporo...	ORPHA:86309
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F...	OMIM:210710
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma	OMIM:604777
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Hyperhidrosis, Choreoa...	OMIM:608643
Fructose Intolerance, Hereditary	Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Fa...	OMIM:229600
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Hypospadias, Keratitis, Cryptorchidism, Hypohidrosis, Erythrod...	OMIM:308205
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadi...	ORPHA:79318
Bardet-Biedl Syndrome 20	Papilledema, Hypercholesterolemia, Bilateral cryptorchidism, Obesity, Male hypogonadism	OMIM:619471
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Pruritus, Or...	ORPHA:556
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, External ear malformation, Cryptorchidism, Kn...	ORPHA:3103
Alg9-Cdg	Torticollis, Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary	ORPHA:79328
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Osteogenesis Imperfecta	Osteopenia, Osteoarthritis, Flexion contracture, Decreased skull ossification, Ataxia, Abnormal d...	ORPHA:666
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Sensorineural hearing impairment, Hypertonia, Neutropenia, Failure to t...	OMIM:617248
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Patent ductus arteriosus, Micropenis, Large for gestational age, Seborrheic dermatitis	OMIM:300868
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size	OMIM:610644
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Neurooculorenal Syndrome	Decreased circulating cortisol level, Mixed hearing impairment, Conjugated hyperbilirubinemia, Cr...	OMIM:620305
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, High urinary g...	ORPHA:881
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Chronic ...	OMIM:244400
Mend Syndrome	Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)...	ORPHA:401973
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Macrotia, Thrombocytopenia	ORPHA:647
Cogan Syndrome	Leukocytosis, Sensorineural hearing impairment, Thrombocytosis, Tinnitus, Anemia	ORPHA:1467
Ameloonychohypohidrotic Syndrome	Hypohidrosis, Seborrheic dermatitis	OMIM:104570
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Increased mean platelet volume, Flexion contr...	ORPHA:487796
Glycogen Storage Disease Ic	Hypoglycemia, Cyclic neutropenia, Hyperlipidemia, Gout, Xanthelasma, Hyperuricemia	OMIM:232240
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Hypercholesterolemia, Insulin resistance, Hype...	ORPHA:273
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Diabetes mellitus,...	ORPHA:2237
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Menorrhagia, Imp...	ORPHA:274
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Decreased motor nerve conduction velocity, Elevated circulating creatine kinase concentration, El...	OMIM:606002
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Cryptorchidism, Inability to walk, Unsteady gait, Abnormality of the Leydig cells, T...	ORPHA:3063
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Cystinosis, Nephropathic	Male infertility, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Ri...	OMIM:219800
Cushing Syndrome Due To Ectopic Acth Secretion	Diabetes mellitus, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethaso...	ORPHA:99889
Listeriosis	Brain abscess, Liver abscess, Ataxia, Abscess, Stiff neck, Osteomyelitis, Tremor, Abnormal cellul...	ORPHA:533
Progeroid Short Stature With Pigmented Nevi	Premature ovarian insufficiency, Hypospadias, Allergic rhinitis, Impaired T cell function, Small ...	OMIM:176690
Alport Syndrome 1, X-Linked	Sensorineural hearing impairment, Thrombocytopenia	OMIM:301050
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis	ORPHA:2239
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Hypothyroidism, Congenital, Nongoitrous, 2	Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Trisomy 10P	Poor motor coordination, Small for gestational age, Abnormal auditory evoked potentials, Posterio...	ORPHA:171929
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Hyperhidrosis, Acne, Seborrheic dermatitis	OMIM:167100
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response, Hyperhidrosis	OMIM:609541
Acute Liver Failure	Incoordination, Ataxia, Hypoglycemia, Slurred speech, Hyperammonemia, Thrombocytopenia	ORPHA:90062
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses	OMIM:208500
Thrombocytopenia 1	Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm...	OMIM:313900
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma...	OMIM:209920
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia	ORPHA:75565
Niemann-Pick Disease Type C	Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Bone-marrow foam cells, ...	ORPHA:646
Tsh-Secreting Pituitary Adenoma	Osteopenia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormal...	ORPHA:91347
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Absent specific antibody response, Inflammatory abnormality of the sk...	OMIM:102700
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra...	ORPHA:79102
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Johanson-Blizzard Syndrome	Joint laxity, Diabetes mellitus, Small for gestational age, Increased VLDL cholesterol concentrat...	OMIM:243800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Recurrent otitis media, Chronic sinusitis, Male infertility	OMIM:619607
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Difficulty walking, Hyperhidrosis	ORPHA:320406
Velocardiofacial Syndrome	Hypoparathyroidism, Cryptorchidism, Umbilical hernia, Impaired T cell function	OMIM:192430
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Annular pancreas, C...	ORPHA:798
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Jacobsen Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Cryptorchidism, Aplasia/Hypoplasia of the ear...	ORPHA:2308
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Optic disc pallor, Exaggerated startle response, Joint laxity, Involuntary movements,...	ORPHA:438213
Hypoplasminogenemia	Cervicitis, Periodontitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response, Failure to thrive	OMIM:617864
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ...	OMIM:163950
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Alagille Syndrome 1	Failure to thrive, Hypertriglyceridemia, Low-set ears, Hypercholesterolemia, Macrotia	OMIM:118450
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Exaggerated startle response, Dystonia	ORPHA:438216
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Leptospirosis	Papilledema, Hyperproteinemia, Thrombocytopenia	ORPHA:509
Stiff-Person Syndrome	Hyperhidrosis, Exaggerated startle response, Diabetes mellitus, Opisthotonus	OMIM:184850
Igg4-Related Kidney Disease	Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Sial...	ORPHA:449395
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive	OMIM:618201
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Hyperinsulinemic hypoglyce...	ORPHA:2968
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Neonatal hyperbilirubinemia, Hypsarrhythmia	OMIM:300896
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocele te...	OMIM:619522
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Failure to thrive, Palmoplantar hyperhidrosis, Congenital hypothyro...	OMIM:617527
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Thrombocytopenia, Weight loss	ORPHA:79078
Sotos Syndrome	Joint laxity, Hip contracture, Inguinal hernia, Aganglionic megacolon, Hypercalcemia, Craniosynos...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Plaa-Associated Neurodevelopmental Disorder	Hyperhidrosis, Exaggerated startle response, Failure to thrive, Dystonia	ORPHA:521426
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response	OMIM:149400
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Aspiration pneumonia, Dystonia	ORPHA:79255
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive	OMIM:615574
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Exaggerated startle response	OMIM:253800
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveiti...	OMIM:181000
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Cystic Fibrosis	Male infertility, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Chronic sinusitis, Panc...	OMIM:219700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Macrotia, Hypoalbuminemia	OMIM:614748
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Optic neuropathy	ORPHA:391665
Hereditary Orotic Aciduria	Patent ductus arteriosus, Impaired T cell function	ORPHA:30
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Short umbilical cord	OMIM:618367

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 Clpp

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 Clpp.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Clpp^{tm1a(EUCOMM)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Clpp^{tm1a(EUCOMM)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Clpp^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Clpp^{tm1a(EUCOMM)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Clpp^{tm1a(EUCOMM)Wtsi}	PMC5827107

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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
Clpp^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Clpp^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, 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: Clpp MGI:1858213

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Spleen Immunophenotyping

Mesenteric Lymph Node Immunophenotyping

X-ray

DSS Histology

Bone marrow immunophenotyping

Anti-nuclear antibody assay

Eye Morphology

X-ray

X-ray

X-ray

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Clpp mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data