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Gene: Fancd2 MGI:2448480

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Gene Summary

Name:
Fanconi anemia, complementation group D2
Synonyms:
2410150O07Rik

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
persistence of hyaloid vascular system Fancd2em1(IMPC)Hmgu HET Early adult 1.89×10-06
decreased locomotor activity Fancd2em1(IMPC)Hmgu HET Early adult 1.59×10-05
abnormal retina blood vessel morphology Fancd2em1(IMPC)Hmgu HET Early adult 5.91×10-05
preweaning lethality, complete penetrance Fancd2em1(IMPC)Hmgu HOM   Early adult 1.79×10-06
small kidney Fancd2em1(IMPC)Hmgu HET Early adult 0.00
increased circulating iron level Fancd2em1(IMPC)Hmgu HET Early adult 3.60×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

3 Images

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X-ray

XRay Images Whole Body Dorso Ventral

3 Images

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Human diseases caused by Fancd2 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.

The table below shows human diseases associated to Fancd2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Patent ductus arteri... OMIM:227646
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Abnormality of the hypothalamus-... ORPHA:84

The table below shows human diseases predicted to be associated to Fancd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Intrauterine growth retardation, Short stature, Decreased testicular size ORPHA:436144
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Spermatogenic Failure 12
Azoospermia, Infertility OMIM:615413
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Gombo Syndrome
Microphthalmia, Delayed puberty OMIM:233270
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Biemond Syndrome Type 2
Hypospadias, Short stature, Hypogonadotropic hypogonadism, Obesity, Hypogonadism, Delayed puberty... ORPHA:141333
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Postnatal growth retardation, Death in childhood, Intrauterine growth retardati... OMIM:615440
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Sple... ORPHA:290
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Microphthalmia, Small for gestational age OMIM:278780
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Congenital Varicella Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:291
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Bicornuate uterus, Neonatal death, Microphthalmia OMIM:615524
Gonadoblastoma
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... ORPHA:206484
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Microphthalmia, Hypogonadism, Short stature ORPHA:2528
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Intrauterine growth retardation OMIM:616570
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Ambiguous ge... OMIM:610644
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Jaundice, Lymphadenopathy, Anemi... ORPHA:858
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Large for gestational age ORPHA:2432
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Microphthalmia ORPHA:363741
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cofs Syndrome
Death in infancy, Short stature, Hypogonadism, Microphthalmia, Intrauterine growth retardation ORPHA:1466
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Cataract, Anemia, Hepatosplenomegaly OMIM:273680
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Silver-Russell Syndrome Due To 11P15 Microduplication
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... ORPHA:231144
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Microphthalmia, Failure to thrive OMIM:274270
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Wolfram Syndrome 1
Sideroblastic anemia, Cataract, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypo... OMIM:222300
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Obesity, Cryptorchidism OMIM:601794
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration... ORPHA:314478
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon... OMIM:615234
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Cerebrooculofacioskeletal Syndrome 2
Small scrotum, Small for gestational age, Growth delay, Death in childhood, Microphthalmia, Micro... OMIM:610756
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Microphthalmia, Death in infancy, Cryptorchidism OMIM:613730
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Short stature, Macular atrophy, Optic atrophy, Microcornea, Micropht... OMIM:616171
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
2Q24 Microdeletion Syndrome
Growth delay, Microphthalmia, Failure to thrive, Small for gestational age ORPHA:1617
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Cowden Syndrome 1
Hyperthyroidism, Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Ha... OMIM:158350
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Growth delay, Neonatal death, Microphthalmia, Decreased t... ORPHA:85284
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal mac... OMIM:607616
Warburg Micro Syndrome 1
Short stature, External genital hypoplasia, Cryptorchidism, Microphthalmia, Failure to thrive OMIM:600118
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Obesity Due To Congenital Leptin Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:66628
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Nanophthalmos
Microphthalmia ORPHA:35612
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Short stature, Hemangiomatosis, Neop... ORPHA:163634
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti... ORPHA:179494
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Micr... ORPHA:2470
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Nephronophthisis
Abnormality of retinal pigmentation, Anemia ORPHA:655
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Pierpont Syndrome
Short stature, Cryptorchidism, Decreased body weight, Microphthalmia, Micropenis, Failure to thrive OMIM:602342
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Short stature, Rhizomelia, Splenomegaly, Optic atrophy, Disproportionate... OMIM:602271
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Nanophthalmos 4
Microphthalmia OMIM:615972
Malaria
Anemia, Thrombocytopenia ORPHA:673
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Seckel Syndrome 2
Short stature, Hypospadias, Small for gestational age, Growth delay, Microphthalmia OMIM:606744
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hypogonadism, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis... OMIM:609218
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Microphthalmia, Hepatic steatosis, Pancreatitis OMIM:618805
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ... ORPHA:335
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cat-Eye Syndrome
Microphthalmia, Short stature, Intrauterine growth retardation ORPHA:195
Trichothiodystrophy 3, Photosensitive
Cataract, Short stature, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adh... OMIM:616395
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ... OMIM:603552
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Intrauterine growth retardation ORPHA:48431
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Short st... ORPHA:251066
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... OMIM:613987
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Aniridia, A... OMIM:194072
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris... OMIM:610023
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia OMIM:615010
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Pierpont Syndrome
Microphthalmia, Small for gestational age, Cryptorchidism ORPHA:487825
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Microphthalmia, Syndromic 13
Microphthalmia, Short stature OMIM:300915
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the ... OMIM:619151
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Rhegmatogenous retinal detachment, Peripheral retinal av... ORPHA:891
Joubert Syndrome 37
Short stature, Cryptorchidism, Obesity, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia ORPHA:100025
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Patent ductus arteriosus, Abnormal vagina morphology, Anemia, Ascites, Thrombocytop... ORPHA:2123
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreas... ORPHA:300298
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Cryptorchidism, Microcornea, Chorioretin... ORPHA:139471
Fanconi Anemia, Complementation Group S
Short stature, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Failure to ... OMIM:617883
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Intrauterine growth retardation, Anemia OMIM:620135
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Growth delay ORPHA:79238
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... ORPHA:231222
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, S... OMIM:610125
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Hemochromatosis, Type 4
Hepatomegaly, Cataract, Diabetes mellitus, Impotence, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Coloboma, Peters anomaly, Micro... OMIM:618652
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Microcytic anemia, Optic atrophy, Coloboma, Microphthalmia OMIM:612379
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Corneal opacity, Short stature, Isosexual precocious puberty, Abnormal vitreo... ORPHA:2788
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Mild short stature OMIM:614833
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Warburg Micro Syndrome 4
Small scrotum, Short stature, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea,... OMIM:615663
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... OMIM:133780
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Short stature, Pancreat... OMIM:617052
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Short stature, Hypospadias, Cryptorchidism, Localized neuroblastoma, Abnormality o... ORPHA:2505
3-Methylglutaconic Aciduria, Type V
Hypospadias, Postnatal growth retardation, Cryptorchidism, Microvesicular hepatic steatosis, Opti... OMIM:610198
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent duct... OMIM:603467
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal... OMIM:614732
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Coloboma, Retinal dysplasia, Microphthalmia, Ocular anterior segment dysg... ORPHA:324416
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ab... ORPHA:1359
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Postnatal growth retardation, Cryptorchidism, Microphthalmia, Intrauterine growth ... ORPHA:2728
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Trisomy 13
Cataract, Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Patent ductus arter... ORPHA:3378
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Ovarian neoplasm, Neoplasm of the centra... ORPHA:83469
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, Hypospadias, Microcytic anemia, Cryptorchidism, HbH hemoglobin ORPHA:98791
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Short stature, Unilateral microphthalmos OMIM:619318
Warburg Micro Syndrome 3
Small scrotum, Cataract, Postnatal growth retardation, Hypoplastic labia minora, Optic atrophy, D... OMIM:614222
Bardet-Biedl Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of the ova... ORPHA:110
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Small scrotum, Cryptorchidism, Hypogonadism, Microphthalmia, Intrauterine growth retardation ORPHA:228390
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Werner Syndrome
Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Acral lentiginous ... ORPHA:902
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Reticulocytopenia, A... OMIM:600901
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Cirrhosis, Thrombocytopenia ORPHA:101028
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Bloom Syndrome
Acute myeloid leukemia, Malignant genitourinary tract tumor, Male infertility, Premature ovarian ... ORPHA:125
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Astigmatism, Chorioreti... ORPHA:494344
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Re... OMIM:227650
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Anemia, Neonatal death, Decr... OMIM:608104
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Short stature, Postnatal growth retardation, Bilateral microphthalmos, Developmental... ORPHA:93325
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Short stature, Cryptorchidism... ORPHA:2510
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Reticulocytopenia, A... OMIM:227645
Ovarian Dysgenesis 10
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Baraitser-Winter Syndrome 1
Short stature, Postnatal growth retardation, Cryptorchidism, Microphthalmia, Micropenis, Failure ... OMIM:243310
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature OMIM:618160
Ritscher-Schinzel Syndrome 3
Postnatal growth retardation, Microphthalmia, Death in infancy, Cryptorchidism OMIM:619135
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Warburg Micro Syndrome 2
Small scrotum, Cataract, Postnatal growth retardation, Cryptorchidism, Optic atrophy, Development... OMIM:614225
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Amenorrhea OMIM:604250
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Silver-Russell Syndrome 3
Unilateral cryptorchidism, Short stature, Small for gestational age, Postnatal growth retardation... OMIM:616489
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Gracile Bone Dysplasia
Death in infancy, Short stature, Aniridia, Microphthalmia, Micropenis, Failure to thrive OMIM:602361
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Short stature, Diabetes insipidus, Prolon... ORPHA:423479
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Joubert Syndrome 22
Microphthalmia, Intrauterine growth retardation OMIM:615665
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Xeroderma Pigmentosum, Complementation Group B
Short stature, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Hypogonadism,... OMIM:610651
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal c... ORPHA:231736
Developmental And Epileptic Encephalopathy 1
Growth delay, Microphthalmia, Micropenis OMIM:308350
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Cryptorchidism, Death in childhood, Microphthalmia, Failure to thrive OMIM:214150
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... OMIM:224120
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Increased circulating gonadotropin ... ORPHA:243
Lead Poisoning
Decreased female libido, Miscarriage, Small for gestational age, Abnormality of the menstrual cyc... ORPHA:330015
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... ORPHA:899
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Optic nerve hypoplasia, Hypoplasia of the uterus, Microphthalmia, Vaginal atresia,... OMIM:617914
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Cataract, Portal hyp... OMIM:620005
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intrauterine growth retardation, Th... OMIM:610333
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Ring Chromosome 10 Syndrome
Microphthalmia, Cachexia, Intrauterine growth retardation ORPHA:1438
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Growth delay, Microphthalmia ORPHA:77298
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor... OMIM:614129
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... ORPHA:231226
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... OMIM:209950
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Rhizomelia ORPHA:93267
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... ORPHA:231214
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Retinal coloboma, M... OMIM:244300
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
Hartsfield Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:2117
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... OMIM:614172
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc... OMIM:609981
Satoyoshi Syndrome
Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,... ORPHA:3130
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Patent du... OMIM:606003
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Short stature, Microphthalmia, Intrauterine growth retardation ORPHA:163966
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hjv Or Hamp-Related Hemochromatosis
Lethargy, Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormal... ORPHA:79230
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Postnatal growth retardation, Growth delay, Microphthalm... OMIM:206920
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Short stature, Postnatal growth retardation, Splen... OMIM:620210
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Severe short stature, Short stature, Developmental cataract, Ret... OMIM:127000
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Fanconi Anemia, Complementation Group I
Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ast... OMIM:609053
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Coloboma, Left ventricular hypertrophy, Microphtha... OMIM:613153
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Short stature, Adrenal hypoplasia, Cryptorchidism, P... OMIM:617053
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypoplasia, Macular hypoplasia,... OMIM:147791
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Hypospadias, Dysmenorrhea, Small for gestational age, Postnatal growth retardation... ORPHA:397590
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced ... OMIM:616050
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decre... ORPHA:381
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypopla... OMIM:616113
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Hepatitis, Anemia, Kays... ORPHA:905
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... OMIM:620282
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia OMIM:613885
Fanconi Anemia, Complementation Group R
Growth delay, Microphthalmia, Bone marrow hypocellularity, Anemia OMIM:617244
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia, Rhizomelia, Short stature, Intrauterine growth retardation OMIM:300863
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism, Patent ductus arteri... OMIM:227646
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Premature Ovarian Failure 8
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... OMIM:301078
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Patent ductus arteriosus, Anemia, Increased m... OMIM:617021
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume OMIM:300048
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Aarskog-Scott Syndrome
Short stature, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorc... OMIM:305400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia OMIM:250800
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Growth delay, Adrenal ... ORPHA:75233
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Retinal dystrophy, Optic nerve hypoplasia, Short stature, Leukocytosis, Optic atrophy, Hypoplasia... OMIM:619321
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cataract, Corneal opacity, Short stature, Cryptorchidism, Ocular albinism, Growth delay, Choroide... ORPHA:2719
Marden-Walker Syndrome
Hypospadias, Postnatal growth retardation, Cryptorchidism, Microphthalmia, Micropenis, Intrauteri... OMIM:248700
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Nephroblastoma, Leukemia, Meningioma OMIM:602501
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Short stature, Fluctuating splenomega... OMIM:610377
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Neuraminidase Deficiency
Hepatomegaly, Cataract, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... OMIM:256550
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Trichothiodystrophy 1, Photosensitive
Death in infancy, Short stature, Small for gestational age, Squamous cell carcinoma, Basal cell c... OMIM:601675
Spondylo-Ocular Syndrome
Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Short stature, Disproportionate sho... ORPHA:85194
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia ORPHA:27
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... ORPHA:85212
Muckle-Wells Syndrome
Hepatomegaly, Short stature, Splenomegaly, Optic atrophy, Conjunctivitis, Delayed puberty, Anemia ORPHA:575
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Short stature, Hypospadias, Unilateral microphthalmos, Macroorchidism, Failure to thrive OMIM:618874
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Gapo Syndrome
Short stature, Dysmenorrhea, Oligozoospermia, Growth delay, Hypogonadism, Hemangioma, Amenorrhea ORPHA:2067
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... OMIM:206900
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Splenomegaly, Microphthalmia, Retinopathy ORPHA:773
Insulin-Like Growth Factor I Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Decreased body weight OMIM:608747
Cerebrooculofacioskeletal Syndrome 4
Short stature, Failure to thrive in infancy, Bilateral microphthalmos, Death in childhood, Intrau... OMIM:610758
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Patent ductus arteriosus, Elevated circulating thyroid-s... OMIM:620185
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Diamond-Blackfan Anemia 6
Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Growth delay, Increased... OMIM:612561
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Cohen Syndrome
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Short stature, Cryptorchidism, Dela... ORPHA:193
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Short stature, Hypospadias, Myelod... OMIM:305000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Retinal dystrophy, Developmental cataract OMIM:613155
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Vaginal atresia, Mic... ORPHA:3301
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Aicardi Syndrome
Postnatal growth retardation, Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Me... OMIM:304050
Temtamy Syndrome
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:1777
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Diabetes mellitus, Rhizomelia, Small for gestational age, Oligozoospermia, Growth delay, Clitoral... OMIM:614813
Microphthalmia, Lenz Type
Cataract, Hypospadias, Short stature, Cryptorchidism, Optic disc coloboma, Microcornea, Chorioret... ORPHA:568
Mosaic Trisomy 9
Hypoplasia of penis, Corneal opacity, Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnorma... ORPHA:99776
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Short stature, Postnatal growth retardation, Cryptorchidism, Rod-co... OMIM:223370
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia, Short stature OMIM:300887
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Short stature, Obesity ORPHA:3191
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy OMIM:617255
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Short stature, Splenomegaly, Primary amenorrhea, Hepatosplenomeg... OMIM:612526
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop... OMIM:257200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Bloom Syndrome
Small for gestational age, Decreased fertility in females, Postnatal growth retardation, Cryptorc... OMIM:210900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Stillbirth, Peters... OMIM:243605
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Immunodeficiency 97 With Autoinflammation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... OMIM:619802
Encephalocraniocutaneous Lipomatosis
Astrocytoma, Cryptorchidism, Hypoplasia of the iris, Lipoma, Microphthalmia, Multiple central ner... OMIM:613001
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Short stature, Abnormal hemoglobin, Cryptorchidism, Mal... ORPHA:847
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus, Anemia ORPHA:99927
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Corneal arcus, Stomatocytosis, ... OMIM:210250
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Kapur-Toriello Syndrome
Hypoplasia of penis, Patent ductus arteriosus, Hypoplastic labia majora, Retinal coloboma, Microp... ORPHA:2328
Preeclampsia
Thrombocytopenia ORPHA:275555
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Diabetes mellitus, Hyperaut... OMIM:209900
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Meckel Syndrome
Accessory spleen, Anophthalmia, True hermaphroditism, Pancreatic fibrosis, Abnormal chorioretinal... ORPHA:564
Sandestig-Stefanova Syndrome
Microphthalmia, Small for gestational age, Intrauterine growth retardation OMIM:618804
Aceruloplasminemia
Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Aceruloplasminemia, R... OMIM:604290
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Abnormality of the hypothalamus-... ORPHA:84
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Short stature, Splen... OMIM:259720
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnata... ORPHA:453533
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... ORPHA:2969
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Xeroderma Pigmentosum, Complementation Group F
Short stature, Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcino... OMIM:278760
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Microphthalmia, Syndromic 9
Anophthalmia, Short stature, Severe short stature, Cryptorchidism, Patent ductus arteriosus, Bila... OMIM:601186
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Short stature, Eosinophilia, Supernumerary... OMIM:308300
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Baraitser-Winter Syndrome 2
Microphthalmia, Short stature OMIM:614583
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature, Hyperinsulinemia ORPHA:66518
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph... ORPHA:209956
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormally large globe, Postnatal growth retardation, Splenomegaly, Cryptorchidism,... ORPHA:1655
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Oculopalatocerebral Syndrome
Microphthalmia, Short stature OMIM:257910
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le... ORPHA:556037
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irreg... ORPHA:264580
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Rhizomelia, Precocious puberty, Microcornea, C... OMIM:615877
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retardation, Splenomegaly, Irregular ... ORPHA:79240
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,... ORPHA:1451
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Patent ductus arteriosus, Astigmatism, Increased size of nasopharyng... OMIM:619769
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Fanconi Anemia, Complementation Group P
Growth delay, Cryptorchidism, Short stature, Squamous cell carcinoma OMIM:613951
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... OMIM:278000
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Rhabdoid Tumor
Thrombocytopenia, Anemia ORPHA:69077
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Short stature, Pure red cell aplasia, Erythroid hypoplasia, ... ORPHA:124
Osteopetrosis, Autosomal Recessive 9
Postnatal growth retardation, Papilledema, Hyperparathyroidism, Anemia OMIM:620366
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Decreased circulat... OMIM:615122
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosteron... ORPHA:247768
Recessive Dystrophic Epidermolysis Bullosa Inversa
Squamous cell carcinoma, Growth delay, Basal cell carcinoma, Cutaneous melanoma, Vaginal stricture ORPHA:79409
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract, Microphthalmia ORPHA:627
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia, Short stature, Decreased body weight OMIM:617306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Peters an... OMIM:236670
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... OMIM:616959
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Frontonasal Dysplasia 1
Microphthalmia, Coloboma, Cataract OMIM:136760
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Growth delay, Increa... ORPHA:77259
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Temtamy Syndrome
Ectopia lentis, Lens luxation, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:218340
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Short stature, Splenomegaly, Jaundice, Growth delay, Nu... OMIM:608885
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Bilateral microphthalmos, Multiple lipomas, Severe postnatal growth retardati... ORPHA:2399
Sengers Syndrome
Thrombocytopenia OMIM:212350
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Short stature, Decreased response to gr... OMIM:146510
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Adams-Oliver Syndrome
Cataract, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia... ORPHA:974
Rodrigues Blindness
Microphthalmia, Short stature OMIM:268320
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Growth delay, Pigmentary retinopathy, Microphthalmia, Mic... OMIM:614230
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Lesch-Nyhan Syndrome
Testicular atrophy, Short stature, Megaloblastic anemia OMIM:300322
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Frontofacionasal Dysplasia
Cataract, Short stature, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris colo... ORPHA:1791
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R... OMIM:221900
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Short stature, Persisten... OMIM:260400
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly... OMIM:612541
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Rothmund-Thomson Syndrome, Type 2
Short stature, Small for gestational age, Cryptorchidism, Squamous cell carcinoma, Basal cell car... OMIM:268400
Fanconi Anemia, Complementation Group L
Growth delay, Bone marrow hypocellularity, Aplasia of the uterus, Microphthalmia, Micropenis, Ane... OMIM:614083
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... ORPHA:99867
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hy... OMIM:301040
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal ly... ORPHA:39041
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, De... ORPHA:33364
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Normochromic anemia, Chol... OMIM:611881
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia, Intrauterine gr... ORPHA:3412
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Short stature, Supernumerary nipple, Cryptorchidism OMIM:612530
Meckel Syndrome, Type 2
Microphthalmia, Intrauterine growth retardation OMIM:603194
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Cataract, Short stature, Diabetes mellitus, Abnormality o... ORPHA:1775
Roberts Syndrome
Cataract, Postnatal growth retardation, Cryptorchidism, Thrombocytopenia, Long penis, Severe intr... ORPHA:3103
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
1Q21.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Microphthalmia, Failure to thrive, Intrauterine growth retardation ORPHA:250989
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Coloboma, Microphthalmia, Retinal degeneration OMIM:615249
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Splenomegaly, Lymphadenitis, Recurrent tonsi... OMIM:618935
Tularemia
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Cockayne Syndrome
Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy... ORPHA:191
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Short stature, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmenta... OMIM:309801
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Short stature, Hypospadias, Small for gestational age, Cryptorchidism, Penoscrotal... OMIM:619148
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Developmental cataract, M... OMIM:212720
Oculoskeletodental Syndrome
Hepatomegaly, Short stature, Splenomegaly, Cryptorchidism, Developmental cataract, Hypothyroidism OMIM:618440
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Aceruloplasminemia
Abnormality of retinal pigmentation, Decreased circulating ceruloplasmin concentration, Ataxia, D... ORPHA:48818
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Patent ductus arteriosus, Microcornea, Microphthalm... ORPHA:2712
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic... OMIM:616005
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... ORPHA:47612
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos, Short stature ORPHA:369891
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Short stature, Cryptorchidism, Microcornea, Growth... ORPHA:3380
Solitary Median Maxillary Central Incisor
Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Short stature, Col... OMIM:147250
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level, Hydrocele tes... OMIM:605309
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Retinal detachment, Cataract, Hypopigmentation of the fundus ORPHA:163649
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Hypogonadism, Decreased seru... OMIM:201100
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Short stature OMIM:617101
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Papillorenal Syndrome
Retinal detachment, Cataract, Short stature, Morning glory anomaly, Lens luxation, Macular hyperp... OMIM:120330
Cockayne Syndrome B
Hepatomegaly, Severe short stature, Postnatal growth retardation, Splenomegaly, Cryptorchidism, O... OMIM:133540
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia, Retinal pigment epithelial mottling, Cataract OMIM:614105
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice... OMIM:615512
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Pelvis-Shoulder Dysplasia
Microphthalmia, Short stature OMIM:169550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Cataract, Short stature, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shorteni... ORPHA:508542
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Incontinentia Pigmenti
Retinal detachment, Cataract, Abnormal chorioretinal morphology, Eosinophilia, Supernumerary nipp... ORPHA:464
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Fetal Alcohol Syndrome
Microphthalmia, Visceral angiomatosis, Short stature, Intrauterine growth retardation ORPHA:1915
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... ORPHA:77301
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... ORPHA:158061
Mosaic Variegated Aneuploidy Syndrome
Short stature, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, ... ORPHA:1052
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Decreased fertility, Microcornea, Growth delay, Keratoconjunctivitis sicca, Microp... OMIM:234050
Dyskeratosis Congenita, Digenic
Short stature, Decreased circulating total IgM, Intrauterine growth retardation, Decreased circul... OMIM:620040
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Developmental cataract OMIM:614219
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Short stature, Sple... ORPHA:585
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome... ORPHA:464329
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Hamartoma of tongue, Cryptorchidism, Stillbirth, Ambiguous genitalia, Microphthalmia OMIM:616300
Glycogen Storage Disease Ixc
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ... OMIM:613027
Meckel Syndrome, Type 4
Microphthalmia, Intrauterine growth retardation OMIM:611134
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Microphthalmia With Linear Skin Defects Syndrome
Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Retinal dysplasia, Abn... ORPHA:2556
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Short stature, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca... ORPHA:1806
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia, Intrauterine growth retardation OMIM:613451
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Lipomas of eyelids, Hamartoma OMIM:167730
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Patent ductus arteriosus, Abnormali... ORPHA:861
Congenital Disorder Of Glycosylation, Type Iil
Patent ductus arteriosus, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:614576
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Anemia ORPHA:231111
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphop... OMIM:127550
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... ORPHA:3261
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Short stature, Astigmatism, Retinal coloboma, Microphthalmia OMIM:618571
Nephronophthisis 11
Anisocoria, Growth delay, Anemia, Hepatic fibrosis, Retinal degeneration OMIM:613550
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Conjun... OMIM:617591
Monosomy 18P
Microphthalmia, Short stature ORPHA:1598
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Microcephaly-Micromelia Syndrome
Neonatal death, Microphthalmia, Intrauterine growth retardation OMIM:251230
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Patent ductus arteriosus, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Cockayne Syndrome Type 3
Hepatomegaly, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Mild postnatal gro... ORPHA:90324
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Abnormality of the uterus, Hypothyroidism, Hy... ORPHA:567
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Hypospadias, Microcornea, Microphthalmia, Clitoral hypertrophy OMIM:616449
X-Linked Agammaglobulinemia
Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Adrenal ... OMIM:249000
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis, Decreased body weight OMIM:300895
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Cyclopia, Diabetes insipidus, Diabetes mellitus, Abnormality o... ORPHA:2162
Pelvis-Shoulder Dysplasia
Short stature, Mesomelic/rhizomelic limb shortening, Bilateral microphthalmos, Microcornea, Neona... ORPHA:2839
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Macular atrophy, Splenomegaly, Microvesicular hepatic steatosis, ... OMIM:619418
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypopla... OMIM:603457
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Thrombocytopenia OMIM:617397
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Microphthalmia, Micropenis OMIM:264480
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:274150
Pseudo-Torch Syndrome 3
Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Rothmund-Thomson Syndrome Type 1
Premature ovarian insufficiency, Short stature, Small for gestational age, Myelodysplasia, Crypto... ORPHA:221008
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Chops Syndrome
Cataract, Short stature, Splenomegaly, Cryptorchidism, Patent ductus arteriosus, Optic atrophy OMIM:616368
Chromosome 13Q14 Deletion Syndrome
Supernumerary nipple, Cryptorchidism, Growth delay, Microphthalmia, Micropenis, Retinoblastoma OMIM:613884
Fish-Eye Disease
Splenomegaly, Corneal opacity, Lymphadenopathy, Hepatomegaly ORPHA:79292
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever... OMIM:102700
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cataract, Corneal opacity, Chorioretinal dysplasia, Short stature, Cryptorch... ORPHA:534
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:259700
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel... OMIM:608233
Pseudo-Torch Syndrome 1
Splenomegaly, Patent ductus arteriosus, Thrombocytopenia OMIM:251290
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Microphthalmia, ... OMIM:273395
2Q31.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Optic disc coloboma, Coloboma, Microphthalmia, Abnormality of the ... ORPHA:251014
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Leopard Syndrome 1
Hypospadias, Short stature, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of... OMIM:151100
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Anemia OMIM:170100
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Phace Association
Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Developmental cataract, Congenit... OMIM:606519
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Intrauterine growth retardation ORPHA:1352
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Development... OMIM:610199
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Stillbi... OMIM:229850
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Optic atrophy, Hepat... OMIM:615688
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Short stature, Microcornea, Severe postnatal growth retardation, Microphthalmia ORPHA:35173
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:235400
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Remnants of the hyaloid vascular system, Protein... OMIM:609049
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Agammaglobulinemia, T lymphocytope... OMIM:300755
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Microphthalmia, Failure to thrive, Rhizomelia OMIM:302960
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, ... OMIM:175780
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Short stature, Leukocoria,... ORPHA:2714
Hallermann-Streiff Syndrome
Cataract, Proportionate short stature, Cryptorchidism, Optic disc coloboma, Chorioretinal colobom... OMIM:234100
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia ORPHA:30
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Aplastic anemia, Thrombocytopenia OMIM:300514
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Corneal scarring, Conjunct... OMIM:263700
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Patent ductus arteriosus, Anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:617303
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatospleno... ORPHA:2072
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Joubert Syndrome 14
Morning glory anomaly, Optic atrophy, Growth delay, Coloboma, Microphthalmia OMIM:614424
Holoprosencephaly 9
Anophthalmia, Short stature, Optic nerve hypoplasia, Decreased response to growth hormone stimula... OMIM:610829
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Proteinuria, Abnormal retinal vascular morphology, Elevated circulating... ORPHA:247691
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Short stature, Cryptorchidism, Patent ductus arteriosus, Optic atrophy, Coloboma, Pe... OMIM:616975
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Hypospadias, Enlarged labia minora, Corneal opacity, Postnatal growth... OMIM:268300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... OMIM:603553
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Optic nerve compression, Splenomegaly, Optic atrophy, Growth delay, Decreased circu... OMIM:612301
Fryns Syndrome
Hypospadias, Corneal opacity, Cryptorchidism, Bicornuate uterus, Microphthalmia ORPHA:2059
Cockayne Syndrome A
Hepatomegaly, Retinal atrophy, Cataract, Short stature, Splenomegaly, Cryptorchidism, Retinal pig... OMIM:216400
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... OMIM:300972
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Short stature, Optic disc coloboma, Congenital hypothyroidi... OMIM:620186
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Primary conge... OMIM:105650
Alg9-Cdg
Hepatomegaly, Rhizomelia, Hepatic cysts, Periportal fibrosis, Bicornuate uterus, Hypoplasia of th... ORPHA:79328
Mend Syndrome
Microphthalmia, Failure to thrive, Short stature, Cryptorchidism ORPHA:401973
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Short stature, Postnatal growth retar... ORPHA:138
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Frontorhiny
Cataract, Microphthalmia, Hypopituitarism, Diabetes insipidus, Iris coloboma ORPHA:391474
Microphthalmia With Limb Anomalies
Death in infancy, Short stature, Cryptorchidism, Microphthalmia, Failure to thrive, True anophtha... ORPHA:1106
Linear Nevus Sebaceus Syndrome
Growth delay, Microphthalmia, Adenoma sebaceum, Cavernous hemangioma ORPHA:2612
Heart And Brain Malformation Syndrome
Growth delay, Microphthalmia OMIM:616920
Galloway-Mowat Syndrome 3
Microphthalmia, Failure to thrive, Short stature, Intrauterine growth retardation OMIM:617729
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Optic nerve compression, Anemia OMIM:259730
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Microp... ORPHA:2166
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Hamartoma of tongue, Uterus didelphys, Neonatal death, Microp... OMIM:617925
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
3Q29 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus, Cataract, Hypospadias ORPHA:65286
Stevenson-Carey Syndrome
Microphthalmia, Coloboma OMIM:611961
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Septate v... OMIM:300166
Bartsocas-Papas Syndrome 1
Pterygium, Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Poplite... OMIM:263650
Histiocytoid Cardiomyopathy
Hepatomegaly, Corneal opacity, Cardiomegaly, Optic atrophy, Polycystic ovaries, Microphthalmia, M... ORPHA:137675
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Postnatal growth retardation, Optic disc coloboma, Microcornea, ... ORPHA:959
Rothmund-Thomson Syndrome Type 2
Short stature, Small for gestational age, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell... ORPHA:221016
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone... OMIM:239200
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia OMIM:615758
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Retinal dystrophy OMIM:616538
Hallermann-Streiff Syndrome
Proportionate short stature, Cryptorchidism, Rib exostoses, Microphthalmia, Hypothyroidism ORPHA:2108
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome... ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Joubert Syndrome 2
Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Hypoplastic male external genital... OMIM:608091
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia, Failure to thrive, Short stature OMIM:257850
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fert... OMIM:269700
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Degcags Syndrome
Hepatomegaly, Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Patent du... OMIM:619488
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Thrombocytopenia OMIM:618775
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Cousin Syndrome
Rhizomelia, Ambiguous genitalia, female, Disproportionate short stature, Ambiguous genitalia, mal... OMIM:260660
Brucellosis
Hepatomegaly, Liver abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Epididy... ORPHA:1304
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia, Microphthalmia OMIM:253800
Avian Influenza
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Increased circulating antibody le... ORPHA:77261
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Cataract, Short stature, Bilateral cryptorchidism, Hypogonadism, Anemia ORPHA:3042
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Syndromic Diarrhea
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Hypothyroidism, Patent... ORPHA:84064
Galloway-Mowat Syndrome 1
Small for gestational age, Short stature, Hypoplasia of the iris, Microphthalmia, Intrauterine gr... OMIM:251300
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Intrauterine growth retardation, Failure to thrive, Facial capillary hemangioma ORPHA:364577
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Proboscis Lateralis
Cataract, Corneal opacity, External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Pat... ORPHA:141099
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia, Localized neuroblastoma, Hypoplastic nipples OMIM:156610
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Digeorge Syndrome
Parathyroid agenesis, Impaired T cell function, Sclerocornea, Short stature, Decreased circulatin... OMIM:188400
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Growth delay, Rectovagin... ORPHA:2538
Myhre Syndrome
Short stature, Small for gestational age, Cryptorchidism, Obesity, Birth length less than 3rd per... OMIM:139210
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Thrombocytopenia, Hepatocellular necrosis OMIM:251880
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Developmental cataract, Microcornea, Male urethral meatus stenosis, Microphthalmia, ... ORPHA:464738
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume OMIM:616737
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Aplasia of the uterus OMIM:619879
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Bradykinesia, Dysdiadochokinesis, Gait disturbance... ORPHA:309854
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Severe short stature, Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalm... ORPHA:468631
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Neutropenia, Lip... OMIM:232220
Fontaine Progeroid Syndrome
Death in infancy, Small scrotum, Short stature, Absent nipple, Small for gestational age, Cryptor... OMIM:612289
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia OMIM:619053
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:225750
Mosaic Trisomy 1
Hepatic agenesis, Opacification of the corneal stroma, Microphthalmia, Micropenis, Penile hypospa... ORPHA:1692
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Short stature, ... ORPHA:857
Blau Syndrome
Cataract, Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar optic neuritis, Keratit... ORPHA:90340
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia OMIM:208085
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Momo Syndrome
Bilateral microphthalmos, Short stature, Obesity, Large for gestational age ORPHA:2563
Ivic Syndrome
Patent ductus arteriosus, Leukocytosis, Thrombocytopenia OMIM:147750
Cat Eye Syndrome
Short stature, Patent ductus arteriosus, Biliary atresia, Chorioretinal coloboma, Microphthalmia,... OMIM:115470
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Retinal vascular m... ORPHA:42775
Overlap Myositis
Leukopenia, Thrombocytopenia ORPHA:206572
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma OMIM:231005
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Focal Dermal Hypoplasia
Corneal opacity, Ectopia lentis, Patent ductus arteriosus, Hypoplasia of the iris, Chorioretinal ... ORPHA:2092
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hypospadias, Optic nerve hypoplasia, Short stature, Coloboma, Abnormal optic disc morphology, Ret... ORPHA:508498
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Pilomatrixoma, Oligozoospermia, Infertility, Intrauterine gro... ORPHA:3310
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia ORPHA:99901
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Stillbirth, Adrenal gland dysgenesis, Microphthalmia... OMIM:236680
Fraser Syndrome
Death in infancy, Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, ... ORPHA:2052
Duane-Radial Ray Syndrome
Cataract, Optic disc hypoplasia, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:607323
X-Linked Intellectual Disability, Snyder Type
Short stature, Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Neu-Laxova Syndrome 1
Cataract, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Neonatal death, Mic... OMIM:256520
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Short stature, Hypospadias, Cryptorchidism, Microphthalmia OMIM:616734
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Diabetes mellitus, Choroidal melanoma, Decreased response ... ORPHA:273
Gaucher Disease, Perinatal Lethal
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:608013
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia, Failure to thrive, Thyroid C cell hyperplasia OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Buphthalmos, Persistent pupillary membrane, Peters anomaly, Microphthalmia OMIM:613150
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
3P25.3 Microdeletion Syndrome
Microphthalmia, Patent ductus arteriosus ORPHA:435638
Lowe Oculocerebrorenal Syndrome
Short stature, Postnatal growth retardation, Cryptorchidism, Microphthalmia, Failure to thrive OMIM:309000
Yunis-Varon Syndrome
Cataract, Hypospadias, Short stature, Sclerocornea, Cardiomegaly, Postnatal growth retardation, C... ORPHA:3472
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Short stature, Phthisis bulbi, Retinal calcification, Exudative retinopat... OMIM:259770
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Steinfeld Syndrome
Microphthalmia, Absent gallbladder, Retinal coloboma, Iris coloboma OMIM:184705
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Annular pancreas, Micropenis, Central hypothyroidism, Hepatoblastoma, ... ORPHA:798
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Renpenning Syndrome 1
Cataract, Hypospadias, Short stature, Phimosis, Coloboma, Microphthalmia, Decreased testicular size OMIM:309500
Premature Aging Syndrome, Penttinen Type
Corneal opacity, Elevated circulating thyroid-stimulating hormone concentration, Hypermyelinated ... OMIM:601812
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:90038
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Short stature, Supernumerary nipple, Cryptorchidism, Patent... OMIM:235730
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Lujo Hemorrhagic Fever
Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia ORPHA:319213
Castleman Disease
Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Monosomy 13Q14
Microphthalmia, Retinoblastoma, Short stature, Intrauterine growth retardation ORPHA:1587
Alg12-Cdg
Patent ductus arteriosus, B lymphocytopenia, Thrombocytopenia ORPHA:79324
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:505248
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Retinal dystrophy, Sclerocornea, Anophthalmia, Adrenal hypopl... OMIM:607932
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Focal Dermal Hypoplasia
Anophthalmia, Short stature, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Optic atrophy,... OMIM:305600
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia ORPHA:36234
Branchiooculofacial Syndrome
Cataract, Hypospadias, Anophthalmia, Supernumerary nipple, Postnatal growth retardation, Cryptorc... OMIM:113620
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Short stature, Autoimmune thrombocyto... ORPHA:77293
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis OMIM:609945
Shigellosis
Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:810
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Conjunctivitis, Recurrent corneal erosions, Microphthalmia, Corneal ulc... OMIM:153400
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Unsteady gait, A... ORPHA:637
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Optic atrophy, Short stature OMIM:201180
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:222700
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils ORPHA:36426
Q Fever
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:781
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Asplenia, Abnormal pupil morphology, Microcornea, Webbed penis, Micropenis, Iris c... ORPHA:261552
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Teebi-Shaltout Syndrome
Microphthalmia, Short stature OMIM:272950
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Mycophenolate Mofetil Embryopathy
Microphthalmia, Iris coloboma, Chorioretinal coloboma ORPHA:268249
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Intrauterine growth retardation, Failure to thrive, Facial capillary hemangioma OMIM:608670
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Short stature, Septate vagina, Asplenia, Cryptorchidism, Pa... ORPHA:2152
Witteveen-Kolk Syndrome
Short stature, Decreased response to growth hormone stimulation test, Hypospadias, Phimosis, Unil... OMIM:613406
Turner Syndrome Due To Structural X Chromosome Anomalies
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Shor... ORPHA:99413
Mosaic Monosomy X
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Shor... ORPHA:99228
Monosomy X
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Shor... ORPHA:99226
Fraser Syndrome 1
Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Bicornuate ... OMIM:219000
Turner Syndrome
Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis, Premature ovarian insufficiency, Shor... ORPHA:881
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Patent ductus arteriosus, Anemia ORPHA:163979
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Short stature, Brushf... OMIM:619539
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Neuroleptic Malignant Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Cataract, Hypospadias, Short stature, Septate vagina, Asplenia, Cryptorchidism, De... ORPHA:261537
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder, Cyclopia, Iris coloboma ORPHA:3186
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Holoprosencephaly 1
Short stature, Adrenal hypoplasia, Microphthalmia, Micropenis, Diabetes insipidus OMIM:236100
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume ORPHA:487796
Trichohepatoenteric Syndrome 1
Hypospadias, Galactosuria, Hypoalbuminemia, Increased serum iron, Abnormality of iron homeostasis... OMIM:222470
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:615846
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Wilson Disease
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Anemia OMIM:277900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia ORPHA:2785
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:480520
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology OMIM:154500
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Oculodentodigital Dysplasia
Microcornea, Microphthalmia, Cataract OMIM:164200
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia ORPHA:464321
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma OMIM:610828
Alström Syndrome
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... ORPHA:64
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Ogden Syndrome
Iron deficiency anemia, Patent ductus arteriosus, Polycythemia, Thrombocytopenia OMIM:300855
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen, Supernumerary nipple OMIM:100300
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Leukocytosis, Anemia ORPHA:340
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Microphthalm... OMIM:157170
Acute Liver Failure
Hepatic necrosis, Hepatic periportal necrosis, Thrombocytopenia, Hepatocellular necrosis ORPHA:90062
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Cryptorchidism, Optic disc coloboma, Microcornea, Growth delay, Ciliar... OMIM:309800
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Thrombocytopenia ORPHA:544482
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Abnormal lymphoc... ORPHA:99826
Isolated Arrhinia
Microphthalmia ORPHA:1134
Hardikar Syndrome
Hypersplenism, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Thrombocytopenia OMIM:301068
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Gaucher Disease
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia ORPHA:355
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Thrombocytopenia ORPHA:99827
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Sutural cataract, Patent ductus arteriosus, Nuclear pulverulent cataract, Microphthalmia OMIM:612474
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Ectopic posterior pituitary, Short stature, Optic nerve ... ORPHA:508488
Congenital Disorder Of Glycosylation, Type Iiw
Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia OMIM:619525
Autosomal Recessive Polycystic Kidney Disease
Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly ORPHA:731
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Thrombocytopenia, Microcytic anemia OMIM:256040
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly ORPHA:51
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Cataract ORPHA:306542
Liver Disease, Severe Congenital
Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Leukopenia, Lymphocytosis, Anemia OMIM:619991
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Sarcoidosis
Hemolytic anemia, Eosinophilia, Increased T cell count, Anemia, Leukopenia, Thrombocytopenia ORPHA:797
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia ORPHA:466650
Yellow Fever
Leukocytosis, Neutrophilia, Thrombocytopenia ORPHA:99829
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Patent ductus arteriosus, Juvenile myelomonocytic leukemia OMIM:163950
Leptospirosis
Thrombocytopenia ORPHA:509
Craniofacial Microsomia 1
Limbal dermoid, Microphthalmia, Patent ductus arteriosus, Anophthalmia OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Heart - MPATH diagnostic term granulation tissue Fancd2em1(IMPC)Hmgu HET Early adult
Kidney - process of degenerative change Fancd2em1(IMPC)Hmgu HET Early adult
Kidney - MPATH diagnostic term hydronephrosis Fancd2em1(IMPC)Hmgu HET Early adult
Kidney - developmental and structural abnormality Fancd2em1(IMPC)Hmgu HET Early adult
Heart - inflammation Fancd2em1(IMPC)Hmgu HET Early adult

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 Fancd2.

No publications found that use IMPC mice or data for Fancd2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Fancd2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fancd2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Fancd2tm43555(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Fancd2em1(IMPC)Hmgu Exon Deletion Mice

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