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Gene: Brip1 MGI:2442836

Gene Summary

Name:

BRCA1 interacting protein C-terminal helicase 1

Synonyms:

8030460J03Rik, BACH1, 3110009N10Rik

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
cataract	Brip1^em1(IMPC)J	HOM	Early adult	4.35×10^-07
hyperactivity	Brip1^em1(IMPC)J	HOM	Late adult	2.75×10^-05
abnormal coat/ hair morphology	Brip1^em1(IMPC)J	HOM	Late adult	8.41×10^-07
abnormal vocalization	Brip1^em1(IMPC)J	HOM	Late adult	5.81×10^-06
decreased grip strength	Brip1^em1(IMPC)J	HOM	Late adult	6.08×10^-05
increased mean corpuscular volume	Brip1^em1(IMPC)J	HOM	Early adult	9.08×10^-07
abnormal gait	Brip1^em1(IMPC)J	HOM	Late adult	1.42×10^-05
thrombocytopenia	Brip1^em1(IMPC)J	HOM	Early adult	7.77×10^-06
increased circulating alkaline phosphatase level	Brip1^em1(IMPC)J	HOM	Late adult	1.91×10^-10
abnormal coat/hair pigmentation	Brip1^em1(IMPC)J	HOM	Late adult	3.56×10^-05

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Brip1 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 Brip1 (4 diseases)
Human diseases predicted to be associated with Brip1 (1209 diseases)

The table below shows human diseases associated to Brip1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Fanconi Anemia	Abnormality of chromosome stability, Abnormality of the uterus, Hypogonadism, Azoospermia, Myelod...	ORPHA:84
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar...	ORPHA:145
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Breast Cancer	Breast carcinoma	OMIM:114480

The table below shows human diseases predicted to be associated to Brip1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity, Cataract	OMIM:618660
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:619689
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
N Syndrome	Abnormality of chromosome stability, Neoplasm, Cryptorchidism, Leukemia, Hypospadias	OMIM:310465
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc...	OMIM:261000
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Spermatogenic Failure 65	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm...	OMIM:619712
Spermatogenic Failure 84	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620409
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia	ORPHA:397685
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Spermatogenic Failure 56	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:619515
Ataxia-Telangiectasia	Abnormality of chromosome stability, Elevated circulating hepatic transaminase concentration, Apl...	ORPHA:100
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Azoospermia, Splenomegaly, Hypogonadotro...	OMIM:235200
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:301059
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 40	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell...	OMIM:620084
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Reduced sperm motility, Irregularly shaped sperm tail,...	OMIM:619177
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile...	OMIM:619585
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Spermatogenic Failure 47	Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 39	Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo...	OMIM:618643
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia	OMIM:206100
Hepatic Adenomas, Familial	Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Oligomenorrhea, Abnorm...	ORPHA:280356
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:614822
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:612997
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Aggressive behavior, Increased LDL cholesterol concentration, Gait ataxia, Fair hair	OMIM:618808
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 1	Cryptozoospermia, Oligozoospermia, Male infertility	OMIM:258150
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti...	ORPHA:3085
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility	OMIM:619828
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Isochromosomy Yq	Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Primar...	ORPHA:98798
Trichomegaly	Cataract	OMIM:190330
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Portal hypertension, Splenomegaly, ...	ORPHA:465508
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Fragile X Syndrome	Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism	OMIM:300624
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis	OMIM:617948
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Azoospermia, Type II diabetes...	OMIM:210900
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, Splenomegaly	OMIM:619813
Fanconi Anemia, Complementation Group O	Chromosome breakage, External genital hypoplasia, Cryptorchidism, Renal cyst	OMIM:613390
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Hepatic steatosis, Polycystic ovaries	OMIM:608709
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat...	ORPHA:3202
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Pupillary Membrane, Persistence Of	Persistent pupillary membrane, Developmental cataract, Megalocornea	OMIM:178900
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Nathalie Syndrome	Cataract	ORPHA:2663
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Morbid Obesity And Spermatogenic Failure	Azoospermia, Type II diabetes mellitus, Hepatic steatosis, Oligozoospermia, Infertility	OMIM:615703
Fanconi Anemia, Complementation Group S	Chromosome breakage, Ovarian neoplasm, Ovarian carcinoma, Breast carcinoma	OMIM:617883
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Corneal opacity	ORPHA:1980
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Pol...	OMIM:268020
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Schizophrenia 15	Hyperactivity	OMIM:613950
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Cowden Syndrome 1	Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of the breast,...	OMIM:158350
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Cholestasis,...	ORPHA:562
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of the breast,...	OMIM:615109
Fragile X Syndrome	Folate-dependent fragile site at Xq28, Macroorchidism	ORPHA:908
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Lig4 Syndrome	Acute leukemia, Abnormality of chromosome stability, Lymphoma, Type II diabetes mellitus, Cryptor...	ORPHA:99812
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos...	OMIM:604367
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,...	ORPHA:98870
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Polycystic ovaries	ORPHA:1580
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy, Cirrhosis	OMIM:613987
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hyperinsul...	ORPHA:528
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Polyembryoma	Increased serum serotonin, Irregular menstruation, Gonadal neoplasm, Neoplasm of head and neck, A...	ORPHA:180229
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ...	OMIM:617021
Fanconi Anemia, Complementation Group A	Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Cryptorchidism, Prol...	OMIM:227650
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Gait ataxia, Dysphagia, Hyperactivity, Impulsivity	OMIM:620448
Immunodeficiency 54	Chromosome breakage, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormone excess, Hep...	OMIM:609981
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Fanconi Anemia, Complementation Group E	Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ...	OMIM:600901
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:79085
Cowden Syndrome 5	Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Ovarian cyst, Hypothyroidism, Hyperthyr...	OMIM:615108
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Dysmenorrhea, Polycystic ov...	ORPHA:79083
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Wolfram Syndrome 1	Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus	OMIM:222300
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Fanconi Anemia, Complementation Group P	Squamous cell carcinoma, Chromosomal breakage induced by crosslinking agents, Cryptorchidism	OMIM:613951
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o...	ORPHA:90796
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Phosphoglycerate Dehydrogenase Deficiency	Developmental cataract, Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi...	OMIM:300835
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:615285
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Precocious puberty, Premature adrenarche, Clitoral hypertrophy, Long penis, Irregular menstruatio...	ORPHA:90795
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Splenomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Hepatomegaly, Di...	ORPHA:2348
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Ciliary Dyskinesia, Primary, 51	Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ...	OMIM:620438
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Microphthalmia/Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transamin...	ORPHA:264580
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma	OMIM:604219
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Fanconi Anemia, Complementation Group C	Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Prolonged G2 phase of ...	OMIM:227645
Hypoalphalipoproteinemia, Primary, 2	Cataract, Corneal arcus	OMIM:618463
Peutz-Jeghers Syndrome	Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnorm...	OMIM:175200
Bardet-Biedl Syndrome 19	Hypogonadism, External genital hypoplasia, Patent ductus arteriosus, Hepatic steatosis	OMIM:615996
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Po...	ORPHA:411515
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co...	ORPHA:2869
Familial Adenomatous Polyposis 4	Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Renal cys...	OMIM:617100
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Estrogen Resistance	Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul...	OMIM:615363
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo...	ORPHA:8
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Cholestasis, Hyperinsulin...	OMIM:246200
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre...	OMIM:616860
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Primary adrenal ...	OMIM:617872
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul...	OMIM:615234
3-Methylglutaconic Aciduria Type 4	Iris hypopigmentation, Cataract, Thrombocytopenia	ORPHA:67048
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Micropenis	ORPHA:335
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Ocular albinism	OMIM:614171
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:79240
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Penile freckling, Intestinal polyposis, Hepatic steatosis, Multiple lipomas, H...	ORPHA:210548
Partington Syndrome	Macroorchidism	ORPHA:94083
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Fibrosarcoma, Metrorrhagia, Diffuse leiomyomatos...	ORPHA:314478
Immunodeficiency 46	Anemia, Conjunctivitis, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Adrenal Hypoplasia, Congenital	Precocious puberty, Absence of pubertal development, Azoospermia, Adrenal insufficiency, Primary ...	OMIM:300200
Hyperprolinemia, Type I	Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy	OMIM:239500
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Congenital Factor Vii Deficiency	Menorrhagia, Ovarian cyst	ORPHA:327
Galactosemia Ii	Cataract	OMIM:230200
Fanconi Anemia, Complementation Group D2	Deficient excision of UV-induced pyrimidine dimers in DNA, Annular pancreas, Leukemia, Cryptorchi...	OMIM:227646
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin, Athetosis	OMIM:257800
Majeed Syndrome	Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De...	OMIM:609628
Bone Marrow Failure Syndrome 3	Chromosome breakage, Exocrine pancreatic insufficiency, Cryptorchidism, Hyperechogenic pancreas, ...	OMIM:617052
Preeclampsia	Abnormality of the hepatic vasculature, Type I diabetes mellitus, Elevated circulating hepatic tr...	ORPHA:275555
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Luscan-Lumish Syndrome	Irregular menstruation, Polycystic ovaries	OMIM:616831
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Conjunctival tela...	OMIM:619774
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Galactosemia Iv	Cataract	OMIM:618881
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum...	OMIM:256710
Cataract 1, Multiple Types	Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract	OMIM:116200
Cataract 47	Cataract, Microcornea	OMIM:612018
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi...	ORPHA:91349
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Acquired Generalized Lipodystrophy	Lymphoma, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Polycystic ov...	ORPHA:79086
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Fanconi Anemia, Complementation Group B	Abnormality of chromosome stability, Hypogonadism, Micropenis, Patent ductus arteriosus, Hypergon...	OMIM:300514
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Hepat...	OMIM:615381
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis	OMIM:603552
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro...	OMIM:605724
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc...	ORPHA:206484
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Small nail, Aggressive behavior, Hyperactivity, Motor stereotypy	OMIM:619470
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Aromatase Deficiency	Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ...	ORPHA:91
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Phenylketonuria	Fair hair, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Matern...	OMIM:261600
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant...	ORPHA:90301
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait	OMIM:301107
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Steinert Myotonic Dystrophy	Neoplasm of the skin, Male hypogonadism, Cholelithiasis, Impotence, Elevated circulating hepatic ...	ORPHA:273
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Ovarian c...	ORPHA:249
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Intellectual Developmental Disorder, X-Linked 104	Aggressive behavior, Frontal upsweep of hair, Hyperactivity, Ataxia	OMIM:300983
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,...	ORPHA:99429
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi...	OMIM:277000
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries	ORPHA:1770
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H...	ORPHA:33445
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou...	OMIM:610644
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly...	ORPHA:2969
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Coffin-Siris Syndrome 8	Self-injurious behavior, Hypertrichosis, Long eyelashes, Thick eyebrow, Aggressive behavior, Hype...	OMIM:618362
Xeroderma Pigmentosum, Complementation Group F	Neoplasm of the skin, Deficient excision of UV-induced pyrimidine dimers in DNA, Squamous cell ca...	OMIM:278760
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Cataract 3, Multiple Types	Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract	OMIM:601547
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Fanconi Anemia, Complementation Group F	Microphallus, Decreased response to growth hormone stimulation test, Cryptorchidism, Chromosomal ...	OMIM:603467
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis	ORPHA:1068
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Ovarian Fibroma	Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Peritonitis, Odontogenic kerato...	ORPHA:314473
Dyskeratosis Congenita, Autosomal Dominant 1	Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An...	OMIM:127550
3-Methylglutaconic Aciduria, Type V	Decreased testicular size, Elevated circulating aspartate aminotransferase concentration, Cryptor...	OMIM:610198
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Alazami-Yuan Syndrome	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Low anterior hairline, Hirsutism, Hyperacti...	OMIM:617126
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le...	ORPHA:86839
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Hepatic steatosis, Splenomegaly, Dysmenorrhea, Polycystic ovaries, P...	ORPHA:280365
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia, A...	ORPHA:79476
Deleted in azoospermia	Azoospermia	OMIM:400003
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis...	ORPHA:2959
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Nathalie Syndrome	Cataract	OMIM:255990
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Meningioma	Neoplasm of the skin, Increased circulating prolactin concentration, Neoplasm of the posterior pi...	ORPHA:2495
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Hemochromatosis, Type 2A	Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Hepatomegaly, In...	OMIM:602390
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, Increased ci...	ORPHA:90790
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Myh9-Related Disease	Giant platelets, Presenile cataracts, Congenital thrombocytopenia, Neutrophil inclusion bodies, I...	ORPHA:182050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis	OMIM:611590
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal reproductive system morphology, Hepatic steatosis, Decreased liver function	ORPHA:70472
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Fanconi Anemia	Abnormality of chromosome stability, Abnormality of the uterus, Hypogonadism, Azoospermia, Myelod...	ORPHA:84
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Astigmatism, Thrombocytopenia	ORPHA:261250
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Breast ...	ORPHA:432
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Hartnup Disorder	Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia	OMIM:234500
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone...	ORPHA:64739
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume	OMIM:616943
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity	OMIM:618090
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta...	ORPHA:785
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Short Syndrome	Ovarian cyst, Insulin-resistant diabetes mellitus	OMIM:269880
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration...	OMIM:608594
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Labial hypertrophy...	OMIM:269700
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab...	ORPHA:411511
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities	Premature graying of hair, Gait ataxia, Self-mutilation, Hyperactivity, Paroxysmal bursts of laug...	OMIM:620445
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Glycine Encephalopathy 1	Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Burkitt Lymphoma	Neoplasm of the oral cavity, Abnormality of the ovary, Abnormality of the spleen, Abnormality of ...	ORPHA:543
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia	OMIM:610539
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen...	OMIM:269400
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus...	ORPHA:2298
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage, Melanoma, Gonadal hypoplasia, Bilateral ...	OMIM:278800
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Nodular goiter, Type I diabetes mellitus, Premature thelarche, Polycystic ovaries	ORPHA:371428
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo...	ORPHA:201
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Leber Congenital Amaurosis 7	Cataract, Keratoconus	OMIM:613829
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Obesity And Hypopigmentation	Red hair, Polyphagia	OMIM:620195
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
Fanconi Anemia, Complementation Group L	Micropenis, Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Aplasia of ...	OMIM:614083
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Multiple lipomas, Hydrocele testis, Nephroblastoma	ORPHA:276280
Peters Anomaly	Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an...	ORPHA:708
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Anemia, Dec...	ORPHA:300298
Hyperparathyroidism, Transient Neonatal	Splenic cyst, Hyperparathyroidism, Patent ductus arteriosus, Ovarian cyst	OMIM:618188
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Colon cancer, Burkitt l...	ORPHA:158057
Shwachman-Diamond Syndrome	Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ...	ORPHA:811
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar...	ORPHA:145
Bone Marrow Failure Syndrome 4	Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Congenital Rubella Syndrome	Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia, Corneal opacity, Anemia	ORPHA:290
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Blue irides, Unstea...	OMIM:615516
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Menorrhagia, Hepatic steatosis, Polycystic ovaries, Increased hepatic gly...	ORPHA:79259
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia	OMIM:172850
Hemochromatosis, Type 4	Hepatic steatosis, Cirrhosis, Hepatomegaly, Impotence, Diabetes mellitus	OMIM:606069
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:613101
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Werner Syndrome	Neoplasm of the oral cavity, Decreased fertility, Type II diabetes mellitus, Melanoma, Renal neop...	ORPHA:902
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hypogonadism, Hepatosplenomegaly, Oligozoospermia, Abnormal testis morp...	ORPHA:85450
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Cataract, Microcornea	OMIM:619082
Satoyoshi Syndrome	Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog...	ORPHA:3130
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Atelis Syndrome 1	Anemia, Cataract, Leukopenia, Thrombocytopenia	OMIM:620184
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:618400
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Infantile Systemic Hyalinosis	Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Labial pseudohypertrophy, Hyperinsulinemia, Type II diabetes...	OMIM:151660
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity	ORPHA:1067
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Hypogonadotropic hypogonadism, Cirrhosis...	ORPHA:298
Orofaciodigital Syndrome I	Hepatic fibrosis, Hamartoma of tongue, Hepatic cysts, Ovarian cyst, Hypothalamic hamartoma, Pancr...	OMIM:311200
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Cryptorchi...	OMIM:614527
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De...	ORPHA:280679
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Gapo Syndrome	Hypogonadism, Dysmenorrhea, Amenorrhea, Hemangioma, Oligozoospermia	ORPHA:2067
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Schöpf-Schulz-Passarge Syndrome	Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm	ORPHA:50944
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m...	OMIM:612526
Sengers Syndrome	Cataract, Developmental cataract, Thrombocytopenia	OMIM:212350
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Polyphagia, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Androgen Insensitivity, Partial	Absent vas deferens, Bifid scrotum, Hypogonadism, Infertility, Azoospermia, Cryptorchidism, Male ...	OMIM:312300
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis	ORPHA:382
Bloom Syndrome	Neoplasm of the skin, Lymphoma, Malignant genitourinary tract tumor, Neoplasm of the colon, Azoos...	ORPHA:125
Myotonic Dystrophy 2	Hypogonadism, Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level,...	OMIM:602668
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Bardet-Biedl Syndrome	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:110
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ...	OMIM:618718
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
19P13.12 Microdeletion Syndrome	Precocious puberty, Hepatic steatosis, Cryptorchidism, Hypothyroidism, Hypospadias	ORPHA:254346
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Inappropriate laughter, Ab...	ORPHA:98794
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Lead Poisoning	Decreased male libido, Abnormality of the menstrual cycle, Decreased circulating osteocalcin leve...	ORPHA:330015
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Hypothyroidism, Chromosomal breakage induc...	OMIM:609053
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Motor stereoty...	ORPHA:228402
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, External genital hypop...	ORPHA:79322
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Cataract 39, Multiple Types	Lamellar cataract, Developmental cataract, Anterior polar cataract	OMIM:615188
Lipodystrophy, Familial Partial, Type 4	Oligomenorrhea, Hepatic steatosis, Insulin-resistant diabetes mellitus	OMIM:613877
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Transaldolase Deficiency	Anemia, Hepatosplenomegaly, Thrombocytopenia	ORPHA:101028
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil...	OMIM:226990
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Nephroblasto...	OMIM:194072
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant...	OMIM:610256
Amed Syndrome, Digenic	Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:619151
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Tongue thr...	ORPHA:98795
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary...	ORPHA:247768
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating hepatic transaminase ...	OMIM:264470
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia	ORPHA:2123
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Cimdag Syndrome	Hypogonadism, Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Classic Phenylketonuria	Self-injurious behavior, Hypopigmentation of the skin, Attention deficit hyperactivity disorder, ...	ORPHA:79254
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Trichothiodystrophy	Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma, Cryptorchidism,...	ORPHA:33364
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Anterior Segment Dysgenesis 1	Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif...	OMIM:107250
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Absent vas...	ORPHA:93111
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:618117
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Fanconi Anemia, Complementation Group N	Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage induced by crosslin...	OMIM:610832
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Hermansky-Pudlak Syndrome 5	Ocular albinism, Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Throm...	OMIM:614074
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Cataract 23, Multiple Types	Lamellar cataract, Microcornea, Nuclear cataract	OMIM:610425
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine n...	ORPHA:189427
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Isolated Aniridia	Cataract, Aniridia, Peters anomaly	ORPHA:250923
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia	ORPHA:27
Perrault Syndrome 4	Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased...	OMIM:615300
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia	ORPHA:507
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormality of the menstrual ...	ORPHA:905
Congenital Toxoplasmosis	Anemia, Thrombocytopenia	ORPHA:858
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias	OMIM:618874
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Cataract 20, Multiple Types	Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract	OMIM:116100
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Increased circulating prolactin con...	ORPHA:90674
Congenital Disorder Of Glycosylation, Type Iik	Thrombocytopenia	OMIM:614727
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia	ORPHA:229717
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Polyphagia, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Polyphagia, Hypopigmentation of the skin	ORPHA:71526
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo, Spastic gait, Waddling gait	ORPHA:101003
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Isovaleric Acidemia	Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Myopia, High, With Cataract And Vitreoretinal Degeneration	Lens subluxation, Cataract	OMIM:614292
Aniridia 3	Cataract, Aniridia	OMIM:617142
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:436182
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis	OMIM:620023
Short Chain Acyl-Coa Dehydrogenase Deficiency	Hepatic steatosis	ORPHA:26792
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Congenital Macroglossia	Abnormal hepatic glycogen storage, Hypothyroidism, Neurofibroma	ORPHA:2430
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms	OMIM:618300
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver function	OMIM:616829
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Bilateral cryptorchidism, Microvesicular...	ORPHA:66634
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Adrenal insufficiency, Hepatic ste...	OMIM:619386
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Testicular Germ Cell Tumor	Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma	OMIM:273300
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Cryptorchidism, Phimosis, Oropharyngeal squamous cell carcinoma, Hodgk...	OMIM:305000
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Trisomy 20P	Macroorchidism, Hypospadias, Cryptorchidism, Multiple renal cysts	ORPHA:261318
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
Alport Syndrome 1, X-Linked	Anterior lenticonus, Lenticonus, Developmental cataract, Thrombocytopenia, Corneal erosion	OMIM:301050
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia	OMIM:620603
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Ren...	OMIM:212065
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Hepatic steatosis, Ovarian cyst, Splenomegaly, Parathyroi...	OMIM:188400
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Hypopituitarism, Hepatosplenomegaly, Hep...	OMIM:619013
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Hyperactivity, Fine hair	OMIM:300406
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope...	OMIM:304790
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Biliary atresia	OMIM:615272
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Broad-based gait, Stereotypical body rocking, Thick eyebrow, Unsteady gait...	OMIM:617865
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Polycystic ovaries	ORPHA:137675
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Hyperactivity, Blue irides	OMIM:614613
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619048
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate...	OMIM:614324
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Tularemia	Leukocytosis, Conjunctival hyperemia, Thrombocytopenia, Anemia, Conjunctivitis	ORPHA:3392
Xeroderma Pigmentosum, Complementation Group E	Basal cell carcinoma, Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous...	OMIM:278740
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Familial Adenomatous Polyposis 1	Osteoma, Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duode...	OMIM:175100
Atypical Werner Syndrome	Neoplasm of the skin, Insulin-resistant diabetes mellitus, Neoplasm of the oral cavity, Hyperinsu...	ORPHA:79474
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage, Elevated circulating hepatic transaminas...	OMIM:610965
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Decreased adiponectin level, Hepatic steatosis, Hepatomegaly, Decreased s...	OMIM:615238
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Xeroderma Pigmentosum, Complementation Group C	Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma,...	OMIM:278720
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos...	ORPHA:101096
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Breast hypoplasia, Diabetes mellitus, Oligozoospermia	OMIM:614813
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Griscelli Syndrome Type 2	Iris hypopigmentation, Premature graying of hair, Partial albinism, Hyperlipidemia, Hypopigmentat...	ORPHA:79477
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Delayed menarche, Hepa...	ORPHA:247585
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi...	OMIM:610755
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Rhabdoid Tumor	Anemia, Thrombocytopenia	ORPHA:69077
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hyperinsulinemia, Cirrhosis, Hepatic steatosis	ORPHA:363400
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia...	ORPHA:90794
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Po...	OMIM:619487
Zika Virus Disease	Lens subluxation, Conjunctivitis, Iris coloboma, Thrombocytopenia	ORPHA:448237
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonadism, Patent du...	ORPHA:251066
Fanconi Anemia, Complementation Group U	Chromosome breakage, Patent ductus arteriosus	OMIM:617247
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous cell carcinoma of the...	OMIM:278700
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Alstrom Syndrome	Irregular menstruation, Elevated circulating hepatic transaminase concentration, Insulin-resistan...	OMIM:203800
Acquired Partial Lipodystrophy	Hepatic steatosis	ORPHA:79087
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ...	OMIM:301078
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract	ORPHA:454831
Vitreoretinal Degeneration, Snowflake Type	Corneal guttata, Cataract	OMIM:193230
Nijmegen Breakage Syndrome	Acute leukemia, Abnormality of chromosome stability, Glioma, Lymphoma, Neoplasm, B-cell lymphoma,...	ORPHA:647
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:369840
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Biliary trac...	OMIM:209900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro...	ORPHA:3226
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hypothyroidism, Delayed p...	OMIM:616263
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th...	OMIM:158330
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ...	OMIM:618278
Diarrhea 13	Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
1P36 Deletion Syndrome	Annular pancreas, Abnormal female external genitalia morphology, Hypogonadism, Abnormality of the...	ORPHA:1606
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Hepatosplenomegaly, Thrombocytopenia	ORPHA:210136
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Hemangi...	ORPHA:83628
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Decreased testicular size, Hypoplasia of the ovary, Hepatic steatosis	OMIM:619321
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Mevalonic Aciduria	Cataract, Nuclear cataract, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocy...	OMIM:610377
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Griscelli Syndrome	Iris hypopigmentation, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality of neutrophils	ORPHA:381
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Pancreatoblastoma, Oropharyngeal squamous cell carcinoma, Squamous cell ...	ORPHA:443167
Chediak-Higashi Syndrome	Iris hypopigmentation, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, ...	OMIM:214500
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia	ORPHA:160
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Primary hypothyroidism	ORPHA:300536
Pseudo-Torch Syndrome 1	Cataract, Opacification of the corneal stroma, Splenomegaly, Thrombocytopenia	OMIM:251290
Aicardi Syndrome	Precocious puberty, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma	OMIM:304050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocyto...	ORPHA:508542
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:85212
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Hepatosplenomegaly...	ORPHA:64
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents	OMIM:617244
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Angelman Syndrome	Broad-based gait, Hypopigmentation of the skin, Fair hair, Progressive gait ataxia, Hyperactivity...	OMIM:105830
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Cataract, Microphakia	ORPHA:171844
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia	ORPHA:91547
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Thrombocytopenia, Hypoplasia of the iris	ORPHA:169090
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio	OMIM:618048
Alg8-Cdg	Anemia, Cataract, Thrombocytopenia	ORPHA:79325
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Cholestatic liver disease, Bifid scrotum, Septate vagina, Faci...	OMIM:270400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Polyphagia, Hyperbilirubinemia	OMIM:609734
Propionic Acidemia	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:606054
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Pilomatrixoma, Biliary atresia, Jaundice, Multiple renal cyst...	ORPHA:3310
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:613845
X-Linked Agammaglobulinemia	Anemia, Conjunctivitis, Thrombocytopenia, Neutropenia	ORPHA:47
Patent Ductus Venosus	Hepatic steatosis, Decreased liver function	OMIM:601466
Proteus Syndrome	Rib exostoses, Exostosis of the external auditory canal, Visceral angiomatosis, Neoplasm of the c...	ORPHA:744
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Hepatic steatosis	OMIM:615980
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Elevated circulating hepatic transaminase concentrat...	ORPHA:881
Dyskeratosis Congenita, Autosomal Recessive 8	Chromosomal breakage induced by crosslinking agents	OMIM:620133
Squalene Synthase Deficiency	Hypocholesterolemia, Abnormality of hair pigmentation, Decreased LDL cholesterol concentration, E...	OMIM:618156
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis	OMIM:619644
Williams Syndrome	Precocious puberty, Cholelithiasis, Type II diabetes mellitus, Cryptorchidism, Polycystic ovaries...	ORPHA:904
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:90060
Coloboma, Ocular, Autosomal Recessive	Lens subluxation, Cataract, Iris coloboma	OMIM:216820
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Icf Syndrome	Abnormality of chromosome stability	ORPHA:2268
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Astigmatism, Thrombocytopenia	OMIM:606593
Opitz Gbbb Syndrome	Thyroglossal cyst, Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate ute...	ORPHA:2745
Isolated Ectopia Lentis	Cataract, Ectopia lentis, Ectopia pupillae	ORPHA:1885
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Astigmatism, Thrombocytopenia, Neutropenia...	OMIM:242900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Elevated circulating hepatic transaminase concentration, Hepatic st...	ORPHA:17
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin...	ORPHA:2137
Drug-Induced Lupus Erythematosus	Anemia, Thrombocytopenia	ORPHA:231111
Rabson-Mendenhall Syndrome	Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin...	ORPHA:769
Holocarboxylase Synthetase Deficiency	Keratoconjunctivitis, Thrombocytopenia	ORPHA:79242
Thrombotic Thrombocytopenic Purpura, Hereditary	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:274150
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreas...	ORPHA:42
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cataract, Decreased proportion of class-switched memory B cells, Corneal erosion	OMIM:614878
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep...	OMIM:615438
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce...	ORPHA:158061
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:263501
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m...	OMIM:614700
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage, Melanoma	OMIM:278730
Palmoplantar Carcinoma, Multiple Self-Healing	Squamous cell carcinoma, Carcinoma	OMIM:615225
Carnitine Deficiency, Systemic Primary	Elevated circulating aspartate aminotransferase concentration, Decreased carnitine level in liver...	OMIM:212140
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc...	OMIM:618805
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Oncogenic Osteomalacia	Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon...	ORPHA:352540
Combined Oxidative Phosphorylation Deficiency 21	Hepatic steatosis	OMIM:615918
Prolidase Deficiency	Anemia, Splenomegaly, Thrombocytopenia	OMIM:170100
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Thrombocytopenia	OMIM:608104
Lathosterolosis	Cataract, Microcornea, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, Opaci...	ORPHA:46059
3-Methylglutaconic Aciduria, Type Viib	Cataract, Leukopenia, Zonular cataract, Thrombocytopenia, Neutropenia	OMIM:616271
Transaldolase Deficiency	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:606003
Congenital Enterovirus Infection	Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia	ORPHA:292
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail...	OMIM:256810
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:457077
Hepatoportal Sclerosis	Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:64743
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	OMIM:235400
Monosomy 13Q34	Hepatic steatosis, Metrorrhagia	ORPHA:96168
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe...	OMIM:146255
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, Hy...	OMIM:619991
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of chromosome stability, Abnormality of the pancreas	ORPHA:175
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Ocular albinism, Hepatosplen...	OMIM:608233
Combined Oxidative Phosphorylation Deficiency 19	Mitochondrial swelling, Elevated circulating aspartate aminotransferase concentration, Microvesic...	OMIM:615595
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele...	OMIM:614921
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism, Hemangioma	OMIM:619950
Felty Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:47612
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Thrombocytopenia, Anemia, Conjunctivitis	OMIM:617591
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis	ORPHA:52430
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Punctate keratitis, Refractory sideroblastic anemia, Reticulo...	OMIM:557000
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Primary adrenal insufficien...	OMIM:261515
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,...	ORPHA:1830
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc...	OMIM:241080
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Astigmatism, Thrombocytopenia, Corneal opacity	OMIM:301056
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou...	ORPHA:79124
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:259700
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia	OMIM:613990
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:613989
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251110
Dyskeratosis Congenita, Autosomal Recessive 1	Pterygium, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Gaucher Disease Type 1	Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp...	ORPHA:77259
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Cataract, Lymphopenia, Pancytopenia, Leukopenia, Astigmatism, Thrombocytopenia, Anemia, Iris colo...	OMIM:620654
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Osteopetrosis, Autosomal Recessive 5	Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenome...	OMIM:259720
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A...	OMIM:603553
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
3-Methylglutaconic Aciduria Type 7	Renal cyst, Hypothyroidism, Hepatic steatosis, Elevated circulating hepatic transaminase concentr...	ORPHA:445038
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:277380
Good Syndrome	Anemia, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Elevated circulating hepatic transaminase concentration, Decreased liver function,...	OMIM:613658
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Copper accumulation in liver	ORPHA:209919
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia	ORPHA:97214
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Cyclic Neutropenia	Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:540
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:267700
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:614576
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Immunodeficiency 22	Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal cyst, Hepatic steatosis, Decreased liver function	OMIM:614922
Riddle Syndrome	Chromosomal breakage induced by ionizing radiation	ORPHA:420741
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
Pediatric-Onset Graves Disease	Thrombocytopenia, Keratitis, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies	ORPHA:525731
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lymphopenia, Chroni...	ORPHA:906
Avian Influenza	Conjunctivitis, Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:454836
Adams-Oliver Syndrome	Cataract, Leukopenia, Thrombocytopenia	ORPHA:974
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Maturity-onset di...	OMIM:137920
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Farber Disease	Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Opacification of the corneal strom...	ORPHA:333
Recon Progeroid Syndrome	Anemia, Keratoconjunctivitis sicca, Thrombocytopenia	OMIM:620370
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis	OMIM:201475
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he...	OMIM:613070
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Renal cortical cysts, Hepatic steatosis, Hepatomegaly, Jaundice, Pol...	OMIM:231680
Leprechaunism	Clitoral hypertrophy, Long penis, Central hypothyroidism, Overgrowth of external genitalia, Hyper...	ORPHA:508
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Chronic hepatic failure, Cholestasis, Diffuse hepatic steatosis	ORPHA:746
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:608836
Bcard Syndrome	Cataract, Thrombocytopenia	OMIM:612394
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Mirage Syndrome	Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen	OMIM:617053
Hypermethioninemia Due To Adenosine Kinase Deficiency	Cholestasis, Portal fibrosis, Elevated circulating alanine aminotransferase concentration, Hepati...	OMIM:614300
Congenital Syphilis	Cataract, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:499009
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,...	OMIM:151100
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Wilson Disease	Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspartate aminotran...	OMIM:277900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microvesicular hepatic steatosis, Hepatomegaly, Cirrhosis, Elevated hepatic iron concentration, M...	OMIM:300868
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia	OMIM:618775
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentration, Aggre...	OMIM:612716
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Tangier Disease	Anemia, Hepatosplenomegaly, Thrombocytopenia, Corneal opacity	ORPHA:31150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated circulating hepatic transaminase concentration, Neurofibroma, Bifid scrotum, Hepatic ste...	OMIM:619475
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulating alanine ...	OMIM:261680
Ogden Syndrome	Decreased testicular size, Cryptorchidism, Microvesicular hepatic steatosis, Maternal diabetes, J...	OMIM:300855
Gracile Syndrome	Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration	ORPHA:53693
Noonan Syndrome 4	Blue irides, Thrombocytopenia	OMIM:610733
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Breast Cancer	Breast carcinoma	OMIM:114480
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:617303
Combined Oxidative Phosphorylation Deficiency 37	Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Bile d...	OMIM:618329
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia	OMIM:619879
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated circulating aspartat...	OMIM:617253
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Hepatic steatosis	OMIM:236200
Adrenomyodystrophy	Primary adrenal insufficiency, Hepatic steatosis	ORPHA:977
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia	ORPHA:319218
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia	ORPHA:464343
Chédiak-Higashi Syndrome	Iris hypopigmentation, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural k...	ORPHA:167
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Fasting hyperinsulinemia, Acute hepatic ...	ORPHA:71212
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Splenomegaly, Hepatic ...	OMIM:613327
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
Aspartylglucosaminuria	Hepatomegaly, Macroorchidism, Splenomegaly	ORPHA:93
Pearson Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased response to g...	ORPHA:699
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia	OMIM:308230
Limb-Mammary Syndrome	Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ...	ORPHA:69085
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:605911
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Porphyria, Congenital Erythropoietic	Corneal scarring, Splenomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinogen III cosynt...	OMIM:263700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:201450
Atelis Syndrome 2	Anemia, Developmental cataract, Thrombocytopenia	OMIM:620185
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	ORPHA:98908
Aspartylglucosaminuria	Hepatomegaly, Macroorchidism	OMIM:208400
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic s...	ORPHA:228305
Stevens-Johnson Syndrome	Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neutrophils, Corneal erosion	ORPHA:36426
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated circulating aspart...	OMIM:617093
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:212138
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys...	ORPHA:322
Shigellosis	Microangiopathic hemolytic anemia, Leukocytosis, Splenic abscess, Thrombocytopenia, Conjunctiviti...	ORPHA:810
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Cryptorchidism, Hepatopulmonary fusion, Aplasia of the uterus, A...	OMIM:618280
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Toxic Epidermal Necrolysis	Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Corneal erosion	ORPHA:537
Down Syndrome	Keratoconus, Cataract, Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophili...	ORPHA:870
Necrotizing Enterocolitis	Thrombocytopenia, Leukocytosis, Neutropenia	ORPHA:391673
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia	ORPHA:90051
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal...	ORPHA:91495
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:98793
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Abnormal temper tantrums, Hypopigmentation of the skin, Head-banging, Skin...	ORPHA:177907
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Brittle Cornea Syndrome	Gait disturbance, Abnormality of hair pigmentation	ORPHA:90354
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:177904
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Keratoconjunctivi...	ORPHA:79277
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:177901
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ...	ORPHA:2088
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:3455
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:99901
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair, Overfriendliness	ORPHA:96169
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Gaucher Disease, Type Ii	Anemia, Splenomegaly, Thrombocytopenia	OMIM:230900
Gaucher Disease, Perinatal Lethal	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	OMIM:608013
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Hypopigmentation of the skin, Polyphagia, Skin-picking, Compulsive beha...	ORPHA:398069
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Keratoconjunctivitis, Iron deficiency anemia, Asplenia	OMIM:269200
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:98754
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia,...	ORPHA:2237
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Schistocytosis, Thrombocytopenia	ORPHA:90038
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:348
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Decreased response to growth hormone stimulation test, Cholestasis, Hepato...	OMIM:619503
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Thrombocytopenia	OMIM:619743
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic failure, Hepatic steatosis, Hepatic calcification, Hepatomegaly, Polycystic kidney dyspla...	ORPHA:228308
Paroxysmal Nocturnal Hemoglobinuria	Conjunctival icterus, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal ...	ORPHA:447
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel...	ORPHA:79430
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Sim1-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Hypopigmentation of the skin, Polyphagia, Skin-picking, Hypopigmentatio...	ORPHA:398079
Neuroblastoma	Anemia, Thrombocytopenia	ORPHA:635
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Increased hepatocellu...	ORPHA:71
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple	ORPHA:1521
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Cataract, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Anemia	OMIM:620005
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Ocular albinism, Ataxia, Hypopigmentation of hair, Athetosis	ORPHA:2719
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia...	ORPHA:163746
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Pigmentary retinopathy, Akinesia, Obsessive-compulsive trait, Motor tics, Hyperpigme...	OMIM:234200
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Hepatic steatosi...	ORPHA:98907
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cir...	ORPHA:14
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Thrombocytopenia	ORPHA:261323
Dubowitz Syndrome	Cataract, Thrombocytopenia, Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia	ORPHA:235
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	OMIM:619573
Dyskeratosis Congenita	Cataract, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Increased hepa...	OMIM:619525
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis	OMIM:616672
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Dysbetalipoproteinemia	Acute pancreatitis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus	ORPHA:412
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Norrie Disease	Uterine rupture, Cryptorchidism, Neoplasm of the eye, Delayed puberty, Vascular neoplasm, Erectil...	ORPHA:649
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Microcephaly 29, Primary, Autosomal Recessive	Thick eyebrow, Hyperactivity, Ataxia	OMIM:620047
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Abnormality of...	ORPHA:84064
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:319213
Fibular Hemimelia	Abnormal anterior chamber morphology, Thrombocytopenia	ORPHA:93323
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia, Conjunctivitis	ORPHA:505248
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia	OMIM:617718
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Vici Syndrome	Hypopigmentation of the skin, Ocular albinism, Elevated circulating creatine kinase concentration...	OMIM:242840
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Mogs-Cdg	Hepatosplenomegaly, Thrombocytopenia	ORPHA:79330
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:222700
Gaucher Disease Type 3	Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:77261
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Increased circulating metamyelocyte count, Thrombocytopenia	ORPHA:36234
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in p...	ORPHA:391487
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Lipid accumulation in hepatocytes, Hepat...	ORPHA:20
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Conjunctival telangiectasia, Thrombocytopenia, B lymphocytopenia, T ...	OMIM:251260
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Facial capillary hemangioma, Aplasia of the uterus, Pancreatic cysts, Patent ...	OMIM:274000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Q Fever	Anemia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia	ORPHA:781
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Thrombocytopenia	OMIM:612199
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona...	OMIM:619377
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thrombocytopenia, N...	ORPHA:3260
Jacobsen Syndrome	Microcornea, Iris coloboma, Thrombocytopenia	OMIM:147791
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:615356
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis	OMIM:210200
Aicardi-Goutieres Syndrome 7	Hepatitis, Splenomegaly, Hepatic steatosis, Hypothyroidism, Hepatomegaly	OMIM:615846
Alg12-Cdg	Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Caroli Syndrome	Conjunctival icterus, Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:480520
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Thrombocytopenia, Megaloblastic anemia, Neutropenia	OMIM:277400
Prader-Willi Syndrome	Polyphagia, Attention deficit hyperactivity disorder, Hypopigmentation of the skin, Hypopigmentat...	ORPHA:739
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Renal corticomedullary cysts, Cirrhosis, Hepatomegaly, Polyc...	OMIM:243910
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Cryptorchidism, Biliary tract abnormality, Aplasia of the u...	OMIM:194190
Primary Sjögren Syndrome	Normocytic anemia, Corneal perforation, Lymphopenia, Leukopenia, Decreased proportion of CD4-posi...	ORPHA:289390
Cornelia De Lange Syndrome 1	Microcornea, Astigmatism, Thrombocytopenia	OMIM:122470
Rift Valley Fever	Anemia, Thrombocytopenia	ORPHA:319251
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Jacobsen Syndrome	Cataract, Microcornea, Iris coloboma, Thrombocytopenia	ORPHA:2308
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thrombocytopenia, Anemia,...	OMIM:620376
Citrullinemia, Type Ii, Neonatal-Onset	Intrahepatic cholestasis, Portal fibrosis, Elevated circulating aspartate aminotransferase concen...	OMIM:605814
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Polydipsia, Retinal pigment epithelial mott...	OMIM:219800
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased intramyocellular lipid droplets, Decreased liver function, Increased hepa...	OMIM:220110
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Cataract, Abnormal pupil morphology, Thrombocytopenia, Corneal opacity, Anemia, Buph...	ORPHA:534
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	ORPHA:404454
Neuroleptic Malignant Syndrome	Leukocytosis, Thrombocytopenia, Thrombocytosis	ORPHA:94093
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets	OMIM:220111
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Corn...	ORPHA:2072
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:124000
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Thrombocytopenia, Megaloblastic anemia, Neutropenia	ORPHA:79282
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Hemangioma, Hypospadias, Patent duct...	OMIM:135900
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Jaundice, Diab...	ORPHA:444490
Intellectual Developmental Disorder, Autosomal Dominant 68	Hepatic steatosis, Patent ductus arteriosus	OMIM:619934
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Leukopenia, Thrombocytopenia, Elliptocytosis, Anemia	ORPHA:2785
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia	OMIM:620423
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Degcags Syndrome	Hypopigmentation of the skin, Oral-pharyngeal dysphagia, Premature graying of hair, Hypertrichosi...	OMIM:619488
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Gaucher Disease	Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, Co...	ORPHA:355
Neu-Laxova Syndrome 1	Bifid uterus, Patent ductus arteriosus, Cryptorchidism	OMIM:256520
Roberts Syndrome	Cataract, Thrombocytopenia	ORPHA:3103
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia	ORPHA:163979
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatosplenomegaly, Hepatic...	ORPHA:247598
22Q11.2 Deletion Syndrome	Cataract, Abnormality of thrombocytes, Corneal neovascularization, Splenomegaly, Hypoplasia of th...	ORPHA:567
Brucellosis	Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Thrombocytosis, Anemia	ORPHA:1304
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia	ORPHA:464321
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Lymphocytosis, Neutropenia, Thrombocytopenia, Anemia	ORPHA:50918
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Microvesic...	OMIM:617156
Sarcoidosis	Cataract, Leukopenia, Increased T cell count, Eosinophilia, Keratoconjunctivitis sicca, Thrombocy...	ORPHA:797
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency	OMIM:130050
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistul...	OMIM:107480
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th...	OMIM:276820
Hemorrhagic Fever-Renal Syndrome	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:340
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Elevated circulating 7-dehydrocholesterol concentration, Attention defic...	ORPHA:818
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias	OMIM:236680
Loeys-Dietz Syndrome	Patent ductus arteriosus, Uterine rupture	ORPHA:60030
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:544482
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Punctate opacification of the cornea, Splenomegaly, Thrombocytopenia, Conjunct...	OMIM:256040
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Thrombocytopenia, Anemia	ORPHA:470
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Conjunctivitis	ORPHA:99827
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cirrhosis, Hepatomega...	OMIM:229600
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Development...	ORPHA:51
Osteogenesis Imperfecta	Thrombocytopenia, Corneal opacity	ORPHA:666
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Thrombocytopenia	ORPHA:79078
Okamoto Syndrome	Bifid uterus, Splenomegaly	ORPHA:2729
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Elevated circulating t...	ORPHA:79318
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypersplenism, Splenomegaly, Thrombocytopenia, Acute promyelocytic leukemia, Autoimmune thrombocy...	ORPHA:77293
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:619127
Hardikar Syndrome	Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism	OMIM:301068
Autosomal Recessive Polycystic Kidney Disease	Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Hypersplenism	ORPHA:731
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Pallister-Killian Syndrome	Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj...	OMIM:601803
Yellow Fever	Leukocytosis, Thrombocytopenia, Neutrophilia	ORPHA:99829
Leptospirosis	Conjunctival hyperemia, Thrombocytopenia	ORPHA:509
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias	ORPHA:286
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Homozygous Familial Hypercholesterolemia	Hepatic steatosis	ORPHA:391665

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 Brip1

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 Brip1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Ovarian toxicity of carboplatin and paclitaxel in mouse carriers of mutation in BRIP1 tumor suppressor gene.	Scientific reports (February 2022)	Brip1^em1(IMPC)J	PMC8807594

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MGI Allele	Allele Type	Produced
Brip1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Brip1 MGI:2442836

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Eye Morphology

X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Brip1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data