Gene Summary

Fanconi anemia, complementation group D2

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased locomotor activity Fancd2em1(IMPC)Hmgu HET Early adult 1.59×10-05
persistence of hyaloid vascular system Fancd2em1(IMPC)Hmgu HET Early adult 1.89×10-06
preweaning lethality, complete penetrance Fancd2em1(IMPC)Hmgu HOM   Early adult 1.79×10-06
abnormal retina blood vessel morphology Fancd2em1(IMPC)Hmgu HET Early adult 5.91×10-05
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.


XRay Images Whole Body Lateral Orientation

3 Images


XRay Images Whole Body Dorso Ventral

3 Images

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.

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

Disease Similarity of
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 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
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
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
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
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
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
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
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
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
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-