Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased circulating iron level Fancd2em1(IMPC)Hmgu HET Early adult 3.60×10-05
persistence of hyaloid vascular system Fancd2em1(IMPC)Hmgu HET Early adult 2.18×10-06
abnormal retina blood vessel morphology Fancd2em1(IMPC)Hmgu HET Early adult 5.40×10-05
preweaning lethality, complete penetrance Fancd2em1(IMPC)Hmgu HOM   Early adult 1.79×10-06
decreased locomotor activity Fancd2em1(IMPC)Hmgu HET Early adult 1.98×10-05
small kidney Fancd2em1(IMPC)Hmgu HET Early adult 0.00

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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

X-ray

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
phenotypes
Matching phenotypes Source
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... ORPHA:1646
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size OMIM:619689
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Spermatogenic Failure 51
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 64
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility OMIM:619696
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... ORPHA:98797
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... ORPHA:98798
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Growth delay, Hepatomegaly, Splenomegaly, Poikilo... OMIM:615234
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 5
Infertility OMIM:617996
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... ORPHA:399805
Spermatogenic Failure 73
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Macrosomia With Microphthalmia, Lethal
Large for gestational age, Microphthalmia OMIM:248110
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular schwannoma, Carcinoma OMIM:603641
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Spermatogenic Failure 46
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... OMIM:619095
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:108420
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Bilateral breast hypoplasia, Hypo... ORPHA:52901
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Gombo Syndrome
Delayed puberty, Microphthalmia OMIM:233270
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Spermatogenic Failure 24
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... ORPHA:261529
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... OMIM:187800
Biemond Syndrome Type 2
Short stature, Hypogonadotropic hypogonadism, Hypospadias, Delayed puberty, Microphthalmia, Obesi... ORPHA:141333
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Immotile sperm, Male infertility, Abnormal sperm morphology OMIM:608653
Epidermodysplasia Verruciformis, Susceptibility To, 3
Squamous cell carcinoma, Basal cell carcinoma OMIM:618267
Hyperlysinemia, Type I
Anemia, Ectopia lentis OMIM:238700
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis OMIM:615193
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head OMIM:243060
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Spermatogenic Failure 21
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Infertility, Reduced sperm motility OMIM:617187
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 26
Acephalic spermatozoa, Infertility OMIM:617961
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Microphthalmia OMIM:616570
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... ORPHA:206484
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia OMIM:133180
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Decreased circulating antibody level, Pure red cell aplasia, H... OMIM:618165
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... OMIM:173590
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Nanophthalmos 4
Microphthalmia OMIM:615972
Congenital Rubella Syndrome
Intrauterine growth retardation, Corneal opacity, Abnormality of retinal pigmentation, Hepatomega... ORPHA:290
Microcephaly-Microcornea Syndrome, Seemanova Type
Growth delay, Short stature, Microphthalmia, Hypogonadism ORPHA:2528
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Congenital Varicella Syndrome
Intrauterine growth retardation, Microphthalmia ORPHA:291
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Small for gestational age, Microphthalmia OMIM:278780
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia OMIM:615285
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature ORPHA:3319
Asherman Syndrome
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... ORPHA:137686
Microphthalmia, Isolated 4
Absent testis, Microphthalmia OMIM:613094
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
8P11.2 Deletion Syndrome
Growth delay, Hypoplasia of penis, Spherocytosis, Splenomegaly, Short stature, Hypogonadotropic h... ORPHA:251066
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... OMIM:614837
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... OMIM:619949
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... OMIM:300200
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Short stature, Postnatal growth retardation, Hypogonadism OMIM:616113
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Decreased mean corpuscular volume, Growth delay, Hepatosplenomegaly, Abnor... ORPHA:300298
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Kennedy Disease
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility ORPHA:481
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Functioning Gonadotropic Adenoma
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... ORPHA:91348
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Short stature, Macular atrophy, Retinopathy, Microcornea, Optic atrophy, Optic disc pallor, Catar... OMIM:616171
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... OMIM:616950
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Cofs Syndrome
Short stature, Hypogonadism, Death in infancy, Microphthalmia, Intrauterine growth retardation ORPHA:1466
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Growth delay, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Premature Ovarian Failure 12
Primary amenorrhea, Microphthalmia OMIM:616947
Mmep Syndrome
Cryptorchidism, Microphthalmia ORPHA:3434
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Az... OMIM:602390
Faciothoracogenital Syndrome
Prominent scrotal raphe, Glandular hypospadias, Shawl scrotum, Microphthalmia OMIM:227320
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... OMIM:229070
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microphthalmia ORPHA:2432
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
External genital hypoplasia, Microphthalmia, Obesity, Cryptorchidism, Hypogonadism ORPHA:363741
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Congenital Toxoplasmosis
Intrauterine growth retardation, Abnormality of retinal pigmentation, Hepatomegaly, Ascites, Micr... ORPHA:858
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Increased serum testosterone level, Fibrosarcoma, Abnormal endometrium mo... ORPHA:314478
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Cataract, Neonatal death OMIM:273680
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... ORPHA:454840
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Small for gestational age, Death in childhood, Microphthalmia, Growth delay, Intraute... OMIM:610756
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... OMIM:610644
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Dihydropyrimidine Dehydrogenase Deficiency
Growth delay, Failure to thrive, Microphthalmia OMIM:274270
Familial Hyperprolactinemia
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism ORPHA:397685
Silver-Russell Syndrome Due To 11P15 Microduplication
Severe intrauterine growth retardation, Failure to thrive, Short stature, Small for gestational a... ORPHA:231144
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Microphthalmia, Syndromic 12
Cryptorchidism, Anophthalmia, Bicornuate uterus, Microphthalmia OMIM:615524
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Postnatal growth retardation, Intrauterine growth retardation OMIM:233810
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... OMIM:228300
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... ORPHA:98826
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... ORPHA:848
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity, Cryptorchidism, Microphthalmia, Hypogonadism OMIM:601794
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
2Q24 Microdeletion Syndrome
Growth delay, Small for gestational age, Failure to thrive, Microphthalmia ORPHA:1617
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Wolfram Syndrome 1
Megaloblastic anemia, Testicular atrophy, Pigmentary retinopathy, Thrombocytopenia, Hypothyroidis... OMIM:222300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Hyperprolactinemia
Infertility, Oligomenorrhea, Menorrhagia OMIM:615555
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Testicular Germ Cell Tumor
Azoospermia, Embryonal neoplasm, Choriocarcinoma, Teratoma OMIM:273300
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Short stature, Hepatomega... OMIM:613673
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... OMIM:235200
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Young Syndrome
Azoospermia OMIM:279000
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... ORPHA:314473
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Partial Androgen Insensitivity Syndrome
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... ORPHA:90797
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Cowden Syndrome 1
Hydrocele testis, Thyroiditis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hypert... OMIM:158350
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Melanoma, De... ORPHA:1916
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... ORPHA:199310
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
47,Xyy Syndrome
Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... ORPHA:8
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Abnormal macular morphology, Short stature, B... OMIM:607616
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Microphthalmia, Short stature, Retinal detachment, Retinal d... OMIM:251270
Warburg Micro Syndrome 1
Failure to thrive, External genital hypoplasia, Short stature, Microphthalmia, Cryptorchidism OMIM:600118
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, ... OMIM:212550
Bresek Syndrome
Optic nerve hypoplasia, Neonatal death, Decreased testicular size, Microphthalmia, Growth delay, ... ORPHA:85284
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... ORPHA:280679
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Seckel Syndrome 2
Short stature, Small for gestational age, Hypospadias, Microphthalmia, Growth delay OMIM:606744
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance
Decreased body weight, External genital hypoplasia, Short stature, Postnatal growth retardation, ... OMIM:612947
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Multiple Endocrine Neoplasia, Type Iv
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... OMIM:610755
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Growth delay, Anemia, Ascites, Premature ovaria... ORPHA:100025
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Congenital Atransferrinemia
Hypothyroidism, Anemia, Abnormality of the pancreas ORPHA:1195
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Patent ductus arteriosus, Thrombocytopenia OMIM:617021
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Ollier Disease
Chondrosarcoma, Neoplasm, Precocious puberty, Lymphangioma, Hemangioma, Multiple enchondromatosis... ORPHA:296
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Anemia OMIM:613313
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... OMIM:308700
Nanophthalmos
Microphthalmia ORPHA:35612
Cyanosis, Transient Neonatal
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice OMIM:613977
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Postnatal growth retardation, Male pseudohermaphroditism, Bilateral microphthalmos,... OMIM:600122
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Spondylometaphyseal Dysplasia, Axial
Retinal degeneration, Rod-cone dystrophy, Reduced sperm motility, Splenomegaly, Short stature, Co... OMIM:602271
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Foveal Hypoplasia 2
Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea, Optic nerve misrouting, Foveal ... OMIM:609218
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Nephronophthisis
Anemia, Abnormality of retinal pigmentation ORPHA:655
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Glycogen Storage Disease Vi
Postnatal growth retardation, Failure to thrive in infancy OMIM:232700
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia OMIM:604219
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypogonadotropic hypogonadism, Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:48431
Matthew-Wood Syndrome
Annular pancreas, Failure to thrive, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormalit... ORPHA:2470
Malaria
Anemia, Thrombocytopenia ORPHA:673
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... OMIM:614897
Pierpont Syndrome
Failure to thrive, Decreased body weight, Short stature, Micropenis, Microphthalmia, Cryptorchidism OMIM:602342
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... OMIM:231200
49,Xyyyy Syndrome
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... ORPHA:99330
Schöpf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm ORPHA:50944
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Microcytic anemia, Cataract, Microphthalmia, Hepatic steatosis OMIM:618805
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad... OMIM:300845
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Impot... ORPHA:432
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Hyperkeratosis Lenticularis Perstans
Squamous cell carcinoma, Basal cell carcinoma ORPHA:409
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopen... OMIM:603552
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Cat-Eye Syndrome
Short stature, Intrauterine growth retardation, Microphthalmia ORPHA:195
H Syndrome
Histiocytosis, Amenorrhea, Micropenis, Short stature, Hepatosplenomegaly, Enlarged kidney, Microc... ORPHA:168569
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Postnatal growth retardation, Hypospadias, Optic atrophy, Decre... OMIM:610198
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligospermia, Oligomenorrhea, Anterior ... ORPHA:91351
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Retinal detachment, Posterior embryotoxon, Optic atrophy, Iris coloboma, Catarac... ORPHA:1473
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Micropenis, Left ventricular hypertrophy, Hemorrhagic ovarian cyst... ORPHA:335
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hepatomegaly, Patent ductus arteriosus, Anemia, Thrombocytopenia, Asc... ORPHA:2123
Amed Syndrome, Digenic
Hypoplasia of the uterus, Short stature, Leukopenia, Adrenal hypoplasia, Bone marrow hypocellular... OMIM:619151
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Lymphopenia, Microphthalmia, Short stature, Abdominal adhesions,... OMIM:616395
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Short stature, Coloboma, Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Micro... OMIM:610023
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Abnormal anterior eye segment morphology, Retinal... ORPHA:209956
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:314050
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... OMIM:194072
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Shor... ORPHA:2183
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Microphthalmia, Syndromic 13
Short stature, Microphthalmia OMIM:300915
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Carney Complex
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Increased circulating insulin-like... ORPHA:1359
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Fanconi Anemia, Complementation Group S
Failure to thrive, Ovarian neoplasm, Breast carcinoma, Short stature, Microphthalmia OMIM:617883
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Microphthalmia ORPHA:3469
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation OMIM:615361
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature ORPHA:2578
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Growth delay, Thrombocy... OMIM:613987
Pierpont Syndrome
Cryptorchidism, Small for gestational age, Microphthalmia ORPHA:487825
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Optic atrophy, Optic disc pallor... OMIM:611490
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia OMIM:614171
Developmental And Epileptic Encephalopathy 66
Astigmatism, Anemia, Cryptorchidism, Neutropenia OMIM:618067
Maternal Uniparental Disomy Of Chromosome X
Short stature, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue in... ORPHA:261519
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... OMIM:173470
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Short stature, Microphthalmia OMIM:617914
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Hypersplenism, Splenomegaly OMIM:610539
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Cataract, Growth delay, Jaundice ORPHA:79238
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Splenomegaly, Hypospadias, Anemia, Ascites ORPHA:1046
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Corneal opacity, Short stature, Retinal detachment, Isosexual precoc... ORPHA:2788
Microphthalmia With Brain And Digit Anomalies
Abnormality of the hypothalamus-pituitary axis, Anophthalmia, Microcornea, Retinal dystrophy, Iri... ORPHA:139471
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Splen... OMIM:617514
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Warburg Micro Syndrome 3
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... OMIM:614222
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Oculocerebrocutaneous Syndrome
Cryptorchidism, Anophthalmia, Microphthalmia OMIM:164180
Congenital Disorder Of Glycosylation, Type Ik
Intrauterine growth retardation, Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Hemochromatosis, Type 4
Impotence, Hepatomegaly, Cirrhosis, Cataract, Diabetes mellitus, Anemia, Hepatic steatosis OMIM:606069
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... OMIM:308750
Joubert Syndrome 37
Short stature, Micropenis, Decreased testicular size, Microphthalmia, Obesity, Cryptorchidism OMIM:619185
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos, Short stature OMIM:619318
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Optic atrophy, Microcytic anemia, Cataract, Microphthalmia OMIM:612379
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism OMIM:183350
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Short stature, Optic nerve hypoplasia, Microphthalmia, Mild short stature OMIM:614833
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Ambiguous ... OMIM:250790
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Abnormality of the urethra, Menorrhagia, Oligomenorrhea, Polycystic ovaries, Abnormal... ORPHA:2795
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... OMIM:301077
Microphthalmia, Syndromic 5
Micropenis, Short stature, Optic nerve hypoplasia, Anophthalmia, Microcornea, Retinal dystrophy, ... OMIM:610125
Warburg Micro Syndrome 2
Microphthalmia, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Hypopla... OMIM:614225
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... OMIM:300510
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Postnatal growth retardation, Precocious puberty, Intrauterine growth retardation ORPHA:254525
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Werner Syndrome
Miscarriage, Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Seco... ORPHA:902
Warburg Micro Syndrome 4
Micropenis, Short stature, Severe postnatal growth retardation, Microcornea, Optic atrophy, Devel... OMIM:615663
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis OMIM:300367
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Rod-cone dystrophy, Short s... ORPHA:2235
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Decreased circulating antib... OMIM:613101
Multiple Benign Circumferential Skin Creases On Limbs
Short stature, Hypospadias, Microphthalmia, Localized neuroblastoma, Cryptorchidism, Abnormality ... ORPHA:2505
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Fanconi Anemia, Complementation Group F
Cryptorchidism, Decreased response to growth hormone stimulation test, Short stature, Leukopenia,... OMIM:603467
Neurooculocardiogenitourinary Syndrome
Coloboma, Peters anomaly, Patent ductus arteriosus, Microphthalmia, Bilateral cryptorchidism, Car... OMIM:618652
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Developmental cataract, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dys... ORPHA:324416
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Transaldolase Deficiency
Abnormality of the clitoris, Cirrhosis, Hepatosplenomegaly, Anemia, Thrombocytopenia ORPHA:101028
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Histiocytosis-Lymphadenopathy Plus Syndrome
Histiocytosis, Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly,... OMIM:602782
Acute Erythroid Leukemia
Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Trisomy 13
Abnormal retinal vascular morphology, Anophthalmia, Abnormal morphology of female internal genita... ORPHA:3378
Bloom Syndrome
Stomach cancer, Intrauterine growth retardation, Neoplasm of the colon, Esophageal neoplasm, Abdo... ORPHA:125
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
48,Xxyy Syndrome
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Decr... ORPHA:10
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Microphthalmia, Cryptorchidism, Intrauterine growth retardation, Small scrotum ORPHA:228390
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Adrenal hypoplasi... OMIM:614732
Schopf-Schulz-Passarge Syndrome
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma OMIM:224750
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, Hypospadias, Microcytic anemia, HbH hemoglobin, Cryptorchidism ORPHA:98791
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Short stature, Decreased circulating antibody level, Azoospermia, Diabet... ORPHA:1445
Xeroderma Pigmentosum, Complementation Group B
Neoplasm, Microphthalmia, Cutaneous melanoma, Short stature, Basal cell carcinoma, Hypogonadism, ... OMIM:610651
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Hemochromatosis, Type 3
Amenorrhea, Impotence, Lymphopenia, Hypogonadotropic hypogonadism, Cirrhosis, Neutropenia, Anemia OMIM:604250
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Coloboma OMIM:120433
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Postnatal growth retardation, Cryptorchidism, Intrauterine growth retardation, Sm... ORPHA:2728
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Shallow anterior chamber, Retinal degeneration, Macular atrophy, Mi... OMIM:267760
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla... ORPHA:158057
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Idiopathic Aplastic Anemia
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:88
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Fanconi Anemia, Complementation Group A
Microphthalmia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, ... OMIM:227650
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Fanconi Anemia, Complementation Group E
Microphthalmia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, ... OMIM:600901
Sengers Syndrome
Thrombocytopenia OMIM:212350
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... OMIM:278850
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Unilateral microphthalmos, Optic disc hypoplasia, Growth delay, Aplasia/H... ORPHA:137902
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Fanconi Anemia
Absent testis, Decreased fertility in males, Thrombocytopenia, Cataract, Microphthalmia, Hypogona... ORPHA:84
48,Xyyy Syndrome
Azoospermia, Male hypogonadism, Primary gonadal insufficiency ORPHA:99329
Fanconi Anemia, Complementation Group C
Neutropenia, Microphthalmia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism, Throm... OMIM:227645
Bardet-Biedl Syndrome
Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Pigmentary retinopathy, Hepatic fibr... ORPHA:110
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Sple