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Gene: Brca2 MGI:109337

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
breast cancer 2, early onset
Synonyms:
RAB163,  Fancd1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

Phenotype associated images not available

Human diseases caused by Brca2 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 Brca2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Breast Cancer
Breast carcinoma OMIM:114480
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Prostate Cancer
Prostate cancer OMIM:176807
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Wilms Tumor 1
Nephroblastoma OMIM:194070
Fanconi Anemia
Abnormal femur morphology, Neoplasm, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly... ORPHA:84
Medulloblastoma
Medulloblastoma OMIM:155255
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Weight loss, Melanoma, Ovarian ca... ORPHA:1333
Nephroblastoma
Neoplasm of the lung, Nephroblastoma, Neoplasm ORPHA:654
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567

The table below shows human diseases predicted to be associated to Brca2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
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
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Immunodeficiency 110 With Lymphoproliferation
Lymphoproliferative disorder, Recurrent viral infections, Recurrent upper respiratory tract infec... OMIM:614868
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis OMIM:619599
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Desmoid Tumor
Fibroma, Neoplasm of the skin, Sepsis, Desmoid tumors ORPHA:873
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Bullous Impetigo
Recurrent bacterial skin infections, Sepsis ORPHA:36237
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Breast Cancer
Breast carcinoma OMIM:114480
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Immunodeficiency 66
Sepsis OMIM:618847
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev... OMIM:219080
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation OMIM:301021
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Immunodeficiency 46
Recurrent sinopulmonary infections, Sepsis, Chronic oral candidiasis OMIM:616740
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Spermatogenic Failure 17
Male infertility OMIM:617214
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol level, Primary h... OMIM:615830
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Lymphoproliferative Syndrome 2
Lymphoproliferative disorder, Lymphoma, Recurrent pneumonia, Sepsis, Hodgkin lymphoma, Recurrent ... OMIM:615122
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
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 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Reticular Dysgenesis
Sepsis OMIM:267500
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Specific Granule Deficiency 2
Myelodysplasia, Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media OMIM:617475
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
N Syndrome
Abnormality of chromosome stability OMIM:310465
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Galactose Mutarotase Deficiency
Sepsis ORPHA:570422
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Hirschsprung Disease
Neoplasm of the thyroid gland, Sepsis ORPHA:388
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormal rib morphology, Pectus carinatum, Radioulnar synostosi... ORPHA:3268
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Lymphoproliferative disorder, Severe recurrent varicella, Re... ORPHA:276
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... ORPHA:169090
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ... OMIM:615954
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres... ORPHA:251274
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... ORPHA:432
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Satoyoshi Syndrome
Short stature, Tapered finger, Abnormality of the humerus, Nephrogenic diabetes insipidus, Genu v... ORPHA:3130
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid ... ORPHA:2234
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Neonatal Alloimmune Neutropenia
Sepsis ORPHA:464370
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair, Male hypogonad... ORPHA:90793
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... OMIM:612310
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Cryptorchidism, Obesity, Bell-shaped thorax, Short ... OMIM:615633
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Immunodeficiency 102
Recurrent upper respiratory tract infections, Sepsis, Recurrent sinusitis, Recurrent lower respir... OMIM:301082
C1Q Deficiency 2
Recurrent otitis media, Recurrent lower respiratory tract infections, Sepsis OMIM:620321
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Reticular Dysgenesis
Recurrent respiratory infections, Sepsis ORPHA:33355
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Verrucae, Recurrent infections ORPHA:33110
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Acquired Purpura Fulminans
Neoplasm, Sepsis ORPHA:49566
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... ORPHA:231580
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent pharyngitis, Lymp... ORPHA:47612
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Abnormal rib morpholog... ORPHA:1703
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sepsis ORPHA:229717
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrh... OMIM:300510
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Enlargement of the costoc... OMIM:609052
Alg1-Cdg
Sepsis, Recurrent infections ORPHA:79327
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Neoplasm, Sepsis, Recurrent pneumonia ORPHA:47
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short stature, Abnormal rib morphology, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the... ORPHA:2578
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:369929
Sporadic Creutzfeldt-Jakob Disease
Sepsis, Recurrent infections ORPHA:204
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Short stature, Arachnodactyly, Increased circulati... ORPHA:243
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Sepsis OMIM:619059
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Pyomyositis
Recurrent cutaneous abscess formation, Recurrent infections, Sepsis, Testicular teratoma ORPHA:764
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Increased circu... ORPHA:90790
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Crypto... ORPHA:90791
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha... ORPHA:189427
Selective Igm Deficiency
Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent respiratory infections, R... ORPHA:331235
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... OMIM:611548
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finger, Proximal placeme... ORPHA:628
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Leukopenia, Decreased body weight, Hy... OMIM:617053
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Stuve-Wiedemann Syndrome 2
Neonatal death, Intrauterine growth retardation, Stillbirth, Death in adolescence OMIM:619751
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Cryptorchidism, Abnormal rib morphology, Disproportionate short-limb short s... ORPHA:2772
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Gonadoblastoma, Abnormality of the uterus, Ne... OMIM:194072
Xeroderma Pigmentosum, Complementation Group F
Short stature, Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Squ... OMIM:278760
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, ... ORPHA:1797
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Sepsis ORPHA:289916
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow chest, Flaring... OMIM:156530
Posttransplant Acute Limbic Encephalitis
Sepsis ORPHA:163921
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent upper respiratory tract infections, Lymphoma, Sepsis, Recurrent candida infections, Rec... ORPHA:436159
Bardet-Biedl Syndrome
Finger syndactyly, Hypoplasia of penis, Short stature, Cryptorchidism, Postaxial hand polydactyly... ORPHA:110
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad... ORPHA:2235
Warty Dyskeratoma
Abnormal labia majora morphology, Vulvar neoplasm, Neoplasm of the tongue, Acantholysis ORPHA:69745
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Short stature, Postaxial hand polydactyly, Short th... ORPHA:474
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Perrault Syndrome 3
Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor... OMIM:614129
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Lymphoproliferative disorder, Lymphoma, Recurrent pneumonia, Se... OMIM:614700
Renpenning Syndrome
Severe short stature, Hypospadias, Diabetes mellitus, Cachexia, Pectus excavatum, Abnormal thumb ... ORPHA:3242
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ... OMIM:614324
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... ORPHA:1772
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Decreased circulating aldosterone level, Adr... OMIM:202010
Fanconi Anemia, Complementation Group A
Male infertility, Short stature, Small for gestational age, Hypergonadotropic hypogonadism, Absen... OMIM:227650
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Femoral-Facial Syndrome
Short femur, Short stature, Maternal diabetes, Cryptorchidism, Long penis, Rib fusion, Abnormal r... ORPHA:1988
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphoma, Recurrent upper r... ORPHA:183675
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Omenn Syndrome
Lymphoma, Sepsis ORPHA:39041
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis OMIM:612840
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Clinodactyly of the 5th... OMIM:609638
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Axial Spondylometaphyseal Dysplasia
Thoracic scoliosis, Mild postnatal growth retardation, Proximal femoral metaphyseal irregularity,... ORPHA:168549
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short stature, Metatarsus valgus, Apla... ORPHA:3082
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Reticulocytopenia, Ane... OMIM:600901
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Short stature, Abnormal rib morphology, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus,... OMIM:601076
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... OMIM:617405
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis ORPHA:231154
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypoplasia of the u... ORPHA:2232
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Sepsis, Recurrent candida infections, Recurrent infections, R... ORPHA:83471
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Classic Galactosemia
Sepsis ORPHA:79239
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Sepsis ORPHA:544503
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer ORPHA:145
Prune Belly Syndrome
Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Abnormal rib morphology, Decreased ... ORPHA:2970
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Recurrent infections OMIM:614739
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Recurrent pneumonia, Sepsis, Recurrent sinusitis, Recurrent oti... OMIM:618986
Fanconi Anemia, Complementation Group C
Short stature, Small for gestational age, Hypergonadotropic hypogonadism, Absent thumb, Absent ra... OMIM:227645
Cog4-Cdg
Neonatal sepsis, Recurrent upper respiratory tract infections, Recurrent infection of the gastroi... ORPHA:263501
Lamellar Ichthyosis
Recurrent respiratory infections, Sepsis ORPHA:313
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Netherton Syndrome
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Sepsis OMIM:256500
Müllerian Aplasia And Hyperandrogenism
Short stature, Obesity, Primary amenorrhea, Shield chest, Hypoplasia of the uterus, Increased ser... ORPHA:247768
Immunodeficiency 54
Chromosome breakage OMIM:609981
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Pemphigus Vulgaris
Weight loss, Acantholysis ORPHA:704
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Verrucae ORPHA:79151
Craniodiaphyseal Dysplasia
Diaphyseal thickening, Abnormal rib morphology, Short stature ORPHA:1513
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Recurrent viral infections, Recurrent upper respiratory tract infections, Recurr... ORPHA:169154
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Immunodeficiency 68
Sepsis OMIM:612260
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsis OMIM:616100
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Short stature, Hypospadias, Camptodactyly of f... ORPHA:2311
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Aarskog-Scott Syndrome
Short palm, Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone con... OMIM:305400
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... ORPHA:163966
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Bilateral cryptorchidism, Defective DNA repair after ultravi... OMIM:278800
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... ORPHA:51636
Gonadoblastoma
Gonadal calcification, Dysgerminoma, Increased serum testosterone level, Gonadal dysgenesis with ... ORPHA:206484
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Disproportionate short stature, Abnormal rib morphology, Na... ORPHA:1354
Calciphylaxis
Sepsis ORPHA:280062
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Cowden Syndrome 1
Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Recurrent infec... OMIM:158350
Lethal Acantholytic Erosive Disorder
Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyly, Clinodactyly of the 5th finger, Intra... ORPHA:158687
10Q22.3Q23.3 Microduplication Syndrome
Ambiguous genitalia, Abnormal clavicle morphology, Abnormal rib morphology, Hypospadias ORPHA:276422
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Infant Acute Respiratory Distress Syndrome
Sepsis ORPHA:70587
Fanconi Anemia, Complementation Group O
Death in infancy, Miscarriage, External genital hypoplasia, Short stature, Cryptorchidism, Neonat... OMIM:613390
Ataxia-Telangiectasia
Abnormality of chromosome stability ORPHA:100
Pgm3-Cdg
Recurrent respiratory infections, Recurrent viral infections, Lymphoma, Recurrent pneumonia, Seps... ORPHA:443811
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Sepsis, Recurrent can... ORPHA:477
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Adult Acute Respiratory Distress Syndrome
Sepsis ORPHA:70578
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Acantholysis, Growth delay, Palmoplantar keratoderma, Orthokeratosis, Failure to thrive, Reduced ... OMIM:615508
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Thin ribs, Blind vagina, Micropenis, Penile... ORPHA:456328
Juberg-Hayward Syndrome
Severe short stature, Hypospadias, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnorma... ORPHA:2319
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Premature ovarian insufficiency, Short stature, Female infertility OMIM:619518
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Acantholysis, Palmoplantar hyperkeratosis, Clubbing of fingers, Palmoplantar keratoderma, Failure... OMIM:605676
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Heme Oxygenase 1 Deficiency
Sepsis OMIM:614034
Acute Lung Injury
Sepsis ORPHA:178320
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Inhalational Anthrax
Sepsis ORPHA:247257
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Trisomy 13
Displacement of the urethral meatus, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib mor... ORPHA:3378
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Hypospadias,... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Short metatarsal, Abnormal rib morphology, Abnormal carpal morphology, Pectus c... ORPHA:93351
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature ORPHA:195
Complete Androgen Insensitivity Syndrome
Male infertility, Germ cell neoplasia, Testicular neoplasm, Elevated circulating luteinizing horm... ORPHA:99429
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Cryptorchidism, Thrombocytopenia, Patent ductus arterios... OMIM:227646
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine growth... ORPHA:2643
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Sepsis OMIM:617303
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Sepsis, Chronic ora... OMIM:308230
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Sepsis ORPHA:2241
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Meningococcal Meningitis
Sepsis ORPHA:33475
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal ... ORPHA:314478
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Squamous cel... OMIM:243700
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... ORPHA:1506
Peroxisome Biogenesis Disorder 12A (Zellweger)
Sepsis OMIM:614886
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Becker Nevus Syndrome
Supernumerary nipple, Pectus excavatum, Hypoplastic labia minora, Abnormal tibia morphology, Rib ... ORPHA:64755
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... ORPHA:93324
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Cyclic Neutropenia
Recurrent tonsillitis, Sepsis ORPHA:2686
Prostate Cancer
Prostate cancer OMIM:176807
Metatropic Dysplasia
Severe short stature, Camptodactyly of finger, Abnormal rib morphology, Long thorax, Halberd-shap... ORPHA:2635
Meier-Gorlin Syndrome 1
Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutaneous finger syndactyly, Short p... OMIM:224690
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Cryptorchidism, Fibular hypopla... OMIM:612447
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Scedosporiosis
Sepsis ORPHA:449280
Grant Syndrome
Bowing of the long bones, Short stature, Abnormal rib morphology, Abnormal pelvic girdle bone mor... ORPHA:2097
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 14
Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ... OMIM:615842
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bilateral cryptorchidism, Glandular hyposp... OMIM:300219
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:2790
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Acantholysis ORPHA:455
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Aromatase Deficiency
Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism... ORPHA:91
Darier-White Disease
Enlargement of parotid gland, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respiratory tract infections, ... ORPHA:293978
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Secondary Short Bowel Syndrome
Sepsis ORPHA:95427
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis OMIM:616295
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Staphylococcal Necrotizing Pneumonia
Sepsis ORPHA:36238
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin, Sepsis, Recurrent infections ORPHA:79396
Legionnaires Disease
Recurrent pharyngitis, Sepsis ORPHA:549
Lassa Fever
Sepsis ORPHA:99824
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Abnormal rib morphology ORPHA:280195
Ventilator-Induced Diaphragmatic Dysfunction
Sepsis ORPHA:505395
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Small for gestational age, Thro... ORPHA:699
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Rhizomelia, Short stature, Failure to thrive in infancy, Hypospadias, Postnat... OMIM:611209
Ellis-Van Creveld Syndrome
Hypospadias, Hypoplastic iliac wing, Cryptorchidism, Epispadias, Capitate-hamate fusion, Postaxia... OMIM:225500
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... ORPHA:1908
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Small for gestational age, Hypospadias, Fractured radius, Be... OMIM:616897
Cryptococcosis
Lymphoid leukemia, Neoplasm, Sepsis ORPHA:1546
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Postaxial hand polydactyly, Abnormal rib morphology, Congen... ORPHA:2519
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Thickened ribs, Short stature, Diaphyseal sclerosis OMIM:122860
Kenny-Caffey Syndrome, Type 1
Long clavicles, Proportionate short stature, Thin clavicles, Small hand, Thin ribs, Birth length ... OMIM:244460
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th... ORPHA:249
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Leopard Syndrome 1
Scapular winging, Short stature, Hypospadias, Missing ribs, Pectus excavatum, Cryptorchidism, Pec... OMIM:151100
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... ORPHA:2975
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sp... ORPHA:958
Congenital Enterovirus Infection
Sepsis ORPHA:292
Alg12-Cdg
Recurrent respiratory infections, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneu... ORPHA:79324
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hypospadias, Short stature, Pectus excavatum, Abnormal rib morpholo... ORPHA:2522
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... OMIM:612541
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Short stature, Abnormal rib morphology, Pectu... ORPHA:3068
Avian Influenza
Sepsis ORPHA:454836
Immunodeficiency 59 And Hypoglycemia
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Sepsis OMIM:233600
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short stature, Split hand, Abnormal rib morphology, Intrauterine growth retard... ORPHA:2145
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the... OMIM:609616
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Myelodysplasia, Recurrent viral infections, Sepsis, Recurrent bacterial i... ORPHA:811
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Chronic Granulomatous Disease
Recurrent respiratory infections, Sepsis ORPHA:379
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy OMIM:601163
Vacterl/Vater Association
Bifid scrotum, Finger syndactyly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Preaxial hand... ORPHA:887
Hypophosphatasia
Bowing of the long bones, Failure to thrive in infancy, Short stature, Abnormal rib morphology, N... ORPHA:436
Toxic Epidermal Necrolysis
Weight loss, Abnormal vagina morphology, Acantholysis ORPHA:537
Endove Syndrome, Limb-Only Type
Neonatal sepsis OMIM:619217
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Lateral clavicle hook, Hypoplastic ilia, ... OMIM:617895
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Lymphoma, Chronic leukemia, Sepsis, Acute leukemia, Neoplasm ORPHA:906
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Bell-shaped thorax, Growth delay, Failure to thrive, Horizontal ribs OMIM:614857
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Rhizomelia, Dumbbell-sh... OMIM:228520
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Currarino Syndrome
Recurrent urinary tract infections, Presacral teratoma, Sepsis OMIM:176450
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac crest serrat... ORPHA:239
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Cupped ribs, Cryptorchidism, Short ... ORPHA:1145
Achondrogenesis Type 1B
Severe short stature, Short thorax, Abnormal rib morphology, Disproportionate short stature, Shor... ORPHA:93298
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Cupped ribs, Obesity... OMIM:250420
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Sepsis ORPHA:199299
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... OMIM:300863
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Ear-Patella-Short Stature Syndrome
Hypoplasia of penis, Severe short stature, Hypospadias, Camptodactyly of finger, Aplastic clavicl... ORPHA:2554
Cushing Disease
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para... ORPHA:96253
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Missing ribs, Aplasia/Hypoplasia of the distal pha... ORPHA:1647
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Sepsis OMIM:602450
Three M Syndrome 2
Scapular winging, Severe short stature, Short stature, Small for gestational age, Short thorax, T... OMIM:612921
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... OMIM:613091
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral bowing, Tib... OMIM:223800
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Hypop... OMIM:151210
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Sepsis ORPHA:247691
Pemphigus Foliaceus
Neoplasm of the skin, Hematological neoplasm, Acantholysis ORPHA:79481
Pemphigus Erythematosus
Acantholysis ORPHA:79480
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Trichothiodystrophy
Cryptorchidism, Clubbing, Defective DNA repair after ultraviolet radiation damage, Squamous cell ... ORPHA:33364
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Postnatal growth retardation, Cupped ribs, Metaphyseal widening, Co... OMIM:608940
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Sepsis OMIM:619362
Myhre Syndrome
Abnormal penis morphology, Brachydactyly, Severe short stature, Hypospadias, External genital hyp... ORPHA:2588
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Sepsis ORPHA:36234
Ebola Hemorrhagic Fever
Sepsis ORPHA:319218
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Small for gestational age, Beaded ribs, Thin ribs, Bell-sh... OMIM:166210
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Sepsis, Recurrent gastroenteritis, Recurrent infections ORPHA:37042
Wildervanck Syndrome
Meningocele ORPHA:3456
Boomerang Dysplasia
Neonatal death, Severe short stature OMIM:112310
Alagille Syndrome
Hypoplasia of the ulna, Cryptorchidism, Abnormal rib morphology, Delayed puberty, Clinodactyly of... ORPHA:52
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Pectus carinatum, Abnormal sternum morphology, Neoplasm of the b... ORPHA:2911
Stevens-Johnson Syndrome
Dyspareunia, Weight loss, Acantholysis ORPHA:36426
Bardet-Biedl Syndrome 1
Syndactyly, Diabetes mellitus, Postaxial polydactyly, Nephrogenic diabetes insipidus, Postaxial h... OMIM:209900
Generalized Pustular Psoriasis
Sepsis ORPHA:247353
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... ORPHA:3464
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Xfe Progeroid Syndrome
Failure to thrive, Defective DNA repair after ultraviolet radiation damage, Cachexia OMIM:610965
Trisomy 1Q
Small scrotum, Arachnodactyly, Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Preaxial ... ORPHA:261344
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents OMIM:610832
Wiskott-Aldrich Syndrome
Lymphoproliferative disorder, Recurrent upper respiratory tract infections, Recurrent pneumonia, ... OMIM:301000
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... ORPHA:465508
Icf Syndrome
Abnormality of chromosome stability ORPHA:2268
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Hamartoma of tongue, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Prea... OMIM:616300
Immunodeficiency 87 And Autoimmunity
Recurrent viral infections, Sepsis, Hodgkin lymphoma, Recurrent bacterial infections, Recurrent f... OMIM:619573
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Sepsis, Recurrent gastroenteritis ORPHA:505248
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Hypoplasia of penis, Small scrotum, Short stature, Camptodactyly of finger, Pe... ORPHA:2990
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Severe short stature, Small scrotum, Arachnodactyly, Camptodactyly of finger, ... ORPHA:2215
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity ORPHA:543
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents OMIM:617244
Achondrogenesis, Type Ia
Barrel-shaped chest, Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Beaded ribs, B... OMIM:200600
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Humero-Radial Synostosis
Meningocele ORPHA:3265
Iga Pemphigus
Acantholysis ORPHA:555905
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Melnick-Needles Syndrome
Bowing of the long bones, Short stature, Coxa valga, Short thorax, Abnormal rib morphology, Hip d... ORPHA:2484
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Tibial bowing, Hepatoblastoma, Broad ribs, Micropenis, Myeloid leuk... ORPHA:798
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Radiation Proctitis
Sepsis ORPHA:70475
Wilms Tumor 1
Nephroblastoma OMIM:194070
Thoraco-Abdominal Enteric Duplication
Meningocele ORPHA:1759
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Large for gestational age, Cavernous hemangioma, Thin ribs ORPHA:169189
Greenberg Dysplasia
Beaded ribs, Tetraphocomelia, Hypoplasia of the calcaneus, Narrow chest, Neonatal death, Short ph... OMIM:215140
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Hypoplastic scapulae, Absent nipple, Toe syndactyly, Missing ribs, Split ... OMIM:200980
Autosomal Dominant Popliteal Pterygium Syndrome
Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Cryptorchidism, Split hand, Abno... ORPHA:1300
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Intrauterine growth retar... OMIM:619321
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short stature, Anterior rib cupping, Metaphyseal widening, Coxa vara, Thin ribs, Metaphyseal cupp... OMIM:300232
Achondrogenesis Type 1A
Multiple rib fractures, Severe short stature, Short thorax, Short foot, Narrow chest, Short palm ORPHA:93299
Fanconi Anemia, Complementation Group I
Chromosomal breakage induced by crosslinking agents OMIM:609053
Necrotizing Enterocolitis
Neonatal sepsis ORPHA:391673
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Hepatobl... OMIM:269150
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Thin ribs, Triang... ORPHA:73230
Eiken Syndrome
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... OMIM:600002
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Cryptorchidism, Abnormal rib morphology, Aplasia/Hypoplasia involving the pelvis, V... ORPHA:3301
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Bone Marrow Failure Syndrome 5
Growth delay, Hypogonadism, Short stature, Testicular atrophy OMIM:618165
Basal Cell Nevus Syndrome 1
Short distal phalanx of the thumb, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyo... OMIM:109400
Trisomy 18
Short stature, Camptodactyly of finger, Cachexia, Cryptorchidism, Postaxial hand polydactyly, Abn... ORPHA:3380
Short-Rib Thoracic Dysplasia 12
Short palm, Hypoplastic scapulae, Hamartoma of tongue, Bowing of the legs, Bowing of the arm, Sho... OMIM:269860
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a... OMIM:173800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar h... OMIM:609945
Axial Mesodermal Dysplasia Spectrum
Short stature, Missing ribs, Abnormal rib morphology, Abnormal pelvic girdle bone morphology, Abn... ORPHA:1834
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Cryptorchidism, Patellar aplasia, Abnormal rib morphology... ORPHA:96061
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Pyoderma, Sepsis, Squamous cell carcinoma ORPHA:79404
Fibrochondrogenesis
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Abnormal rib morphology, Bell-shape... ORPHA:2021
Wolfram Syndrome 1
Diabetes mellitus, Diabetes insipidus, Limited mobility of proximal interphalangeal joint, Growth... OMIM:222300
Menkes Disease
Sepsis, Exostoses ORPHA:565
Isolated Anencephaly
Intrauterine growth retardation, Thymus hyperplasia ORPHA:563609
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Rib fusion, Slender finger, ... OMIM:609813
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Spina bifida ORPHA:1327
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... OMIM:208500
Chronic Bilirubin Encephalopathy
Neonatal sepsis ORPHA:529808
Acute Bilirubin Encephalopathy
Neonatal sepsis ORPHA:529799
Dyskeratosis Congenita, Autosomal Recessive 8
Chromosomal breakage induced by crosslinking agents OMIM:620133
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability OMIM:300514
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Obesity, Sprengel anomaly, Brachydactyly ORPHA:2180
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Achondrogenesis, Type Ii
Barrel-shaped chest, Broad long bones, Short tubular bones of the hand, Disproportionate short-tr... OMIM:200610
Shigellosis
Sepsis ORPHA:810
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Ulnar deviat... ORPHA:2876
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Hamartoma of tongue, Septate vagina, Lateral clavicle hook, Postaxial polydac... OMIM:617925
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Pectus carinatum, Disproportionate short-limb short stature, Short... OMIM:259440
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Cartilage-Hair Hypoplasia
Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short palm, Rhizomel... ORPHA:175
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Cleidocranial Dysplasia
Hypoplastic scapulae, Short stature, Down-sloping shoulders, Tapered finger, Abnormal thumb morph... ORPHA:1452
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormal rib morphology, Abnormal fibula morphology, Tib... ORPHA:3035
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Pectus carinatum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyl... OMIM:276820
Cooper-Jabs Syndrome
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... ORPHA:1488
Acute Generalized Exanthematous Pustulosis
Acantholysis ORPHA:293173
Bone Marrow Failure Syndrome 3
Chromosome breakage OMIM:617052
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Short stature, Tapered finger, Hip dislocation, Obesity, Thin ribs, Delay... OMIM:618395
Aicardi Syndrome
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... OMIM:304050
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Thin ribs, Femoral bowing, Shor... OMIM:620076
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, Ov... OMIM:618188
Melioidosis
Sepsis ORPHA:31202
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Short thumb, Hypoplasia of the radius,... ORPHA:3258
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Sprengel anomaly, Abnormal rib morphology ORPHA:2345
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Large for gestational age, Tibial bowing, Narrow chest, Hypoplastic ... ORPHA:96334
Lethal Congenital Contracture Syndrome Type 1
Slender long bone, Abnormal rib morphology, Abnormal hip bone morphology, Short stature ORPHA:1486
Ulbright-Hodes Syndrome
Maternal diabetes, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal external gen... ORPHA:3404
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Bloom Syndrome
Male infertility, Acute myeloid leukemia, Malignant genitourinary tract tumor, Premature ovarian ... ORPHA:125
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Recurrent urinary tract infections, Recurrent staphylococcal infections, ... ORPHA:2968
Neuroleptic Malignant Syndrome
Sepsis ORPHA:94093
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability OMIM:210900
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Schwartz-Jampel Syndrome
Coxa vara, Pectus carinatum, Short stature, Abnormal rib morphology, Abnormal metaphysis morpholo... ORPHA:800
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... ORPHA:77301
Alg9-Cdg
Rhizomelia, Flared metaphysis, Broad ischia, Short long bone, Hypoplasia of the ovary, Narrow gre... ORPHA:79328
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Doors Syndrome
Adrenal hyperplasia, Low anterior hairline, Capillary hemangioma, Congenital hypothyroidism ORPHA:79500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Sepsis OMIM:619418
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Chor... OMIM:618820
Lenz-Majewski Hyperostotic Dwarfism
Hyperextensibility of the finger joints, Syndactyly, Short stature, Anterior pituitary hypoplasia... OMIM:151050
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Xylt1-Cdg
Short stature, Coxa valga, Flared metaphysis, Growth delay, Truncal obesity, Short long bone, Sho... ORPHA:370930
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hyperkeratosis, Broad ribs, Failure to thrive in infancy, Flaring of rib cage OMIM:612852
Pagod Syndrome
Abnormal clavicle morphology, Short stature, Abnormal rib morphology, Abnormal morphology of fema... ORPHA:991
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents OMIM:614083
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Brachydactyly, Elevated circulating thyroid-stimulating hormone co... OMIM:601812
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Cerebrocostomandibular Syndrome
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... ORPHA:1393
Sepsis In Premature Infants
Neonatal sepsis ORPHA:90051
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal preputium morphology, Abnorma... ORPHA:2907
Turner Syndrome Due To Structural X Chromosome Anomalies
Enlarged thorax, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premat... ORPHA:99413
Mosaic Monosomy X
Enlarged thorax, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premat... ORPHA:99228
Monosomy X
Enlarged thorax, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premat... ORPHA:99226
Turner Syndrome
Enlarged thorax, Hashimoto thyroiditis, Short 5th metacarpal, Hypermobility of toe joints, Premat... ORPHA:881
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Short stature, S... OMIM:616229
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Missing ribs ORPHA:2759
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Long clavicles, Arachnodactyly, Overlapping toe, Postnatal growth retardation, Cry... ORPHA:83617
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pancreatic fibrosis, Hamartoma of tongue, Lateral clavicle hook, Preaxial hand polydactyly, Posta... OMIM:263520
Otopalatodigital Syndrome Type 2
Bowing of the long bones, Hypospadias, Tarsal synostosis, Short hallux, Camptodactyly of finger, ... ORPHA:90652
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Thin ribs, Slender long bone, Decreased body weight, Brachydactyly OMIM:618265
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Adducted thumb, Femoral bowing, Short long bone, Hypopla... OMIM:617022
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic notch, Short p... OMIM:250220
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Rat-Bite Fever
Sepsis ORPHA:31205
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Severe short stature, Rhizomelia, Bowing of the long bones, Me... ORPHA:85167
Robinow Syndrome, Autosomal Recessive 1
Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dislocate... OMIM:268310
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Disproportionate short-trunk short stature OMIM:608681
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Syndactyly, Long clavicles, Short stature, Down-sloping... OMIM:265000
Campomelia, Cumming Type
Bowing of the long bones, Myelodysplasia, Pancreatic cysts, Abnormal thorax morphology, Abnormal ... ORPHA:1318
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flaring of rib cage, Larg... OMIM:271640
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Mild short stature, Decreased body weight, Short stature, Thin ribs OMIM:614833
Spondylocostal Dysostosis 1, Autosomal Recessive
Severe short stature, Rib fusion, Short stature, Disproportionate short-trunk short stature OMIM:277300
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Microsporidiosis
Bronchiolitis, Sepsis ORPHA:2552
Dysosteosclerosis
Sclerotic scapulae, Disproportionate short stature, Abnormal metaphyseal trabeculation, Flared me... OMIM:224300
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Squamous cell carcinoma,... ORPHA:678
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Short stature, Abnormal rib morphology, Intrauteri... ORPHA:2050
Listeriosis
Sepsis ORPHA:533
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Mucopolysaccharidosis Type 4
Bowing of the long bones, Short stature, Coxa valga, Short thorax, Abnormal rib morphology, Pectu... ORPHA:582
Campomelic Dysplasia
Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,... OMIM:114290
Kbg Syndrome
Syndactyly, Short stature, Cryptorchidism, Epispadias, Rib fusion, Cutaneous syndactyly, Cervical... OMIM:148050
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Small for gestational age, Large for gestational age, Postnatal growth retardation, Coat hanger s... ORPHA:254534
Revesz Syndrome
Abnormality of chromosome stability OMIM:268130
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Lateral clavicle hook, Pectus excavatum, Cryptorchidism, Metaphyseal widening, Me... OMIM:182212
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Severe Congenital Nemaline Myopathy
Hypospadias, Abnormal thorax morphology, Thin ribs, Micropenis, Adducted thumb ORPHA:171430
Holzgreve Syndrome
Abnormal morphology of ulna, Abnormal rib morphology, Hand polydactyly, Abnormal metacarpal morph... ORPHA:2167
Caroli Syndrome
Sepsis ORPHA:480520
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Phimosis, Abnormal rib morphology, Neoplasm of the ur... ORPHA:2908
Ciliary Dyskinesia, Primary, 1
Asplenia, Absent outer dynein arms OMIM:244400
X-Linked Intellectual Disability, Snyder Type
Long toe, Short stature, Hypospadias, Arachnodactyly, Pectus excavatum, Cryptorchidism, Slender t... ORPHA:3063
Microphthalmia, Syndromic 3
Short stature, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Missing ribs, Postna... OMIM:206900
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Cavernous hemangioma of the face, Supraumbilical raphe OMIM:140850
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodgkin lymphoma, ... OMIM:305000
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Adrenal gland agenesis OMIM:611812
Fanconi Anemia, Complementation Group F
Chromosomal breakage induced by crosslinking agents OMIM:603467
Myhre Syndrome
Brachydactyly, Short stature, Small for gestational age, Overlapping toe, Cryptorchidism, Short t... OMIM:139210
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A... ORPHA:1120
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly OMIM:184400
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Cachexia ORPHA:93941
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Short stature, Rhizomelia, Bowing of the... OMIM:613848
Ctcf-Related Neurodevelopmental Disorder
Recurrent lower respiratory tract infections, Sepsis, Recurrent infections ORPHA:363611
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Rocker bottom foot, Proximal placement of ... OMIM:229850
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Short stature, Irregular carpal bones, Split hand... OMIM:252600
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... ORPHA:227990
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Patent ductus arteriosus, Asplenia OMIM:617746
Wolf-Hirschhorn Syndrome
Short stature, Hypospadias, Short hallux, Pseudoepiphyses of the metacarpals, Precocious puberty,... OMIM:194190
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Proximal placement of thumb, Facial capillary hemangioma, Finger syndactyly,... ORPHA:818
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Tapered finger, Bilateral cryptorchidism, Large for gestational age, Rib fusion, Cli... ORPHA:544488
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal dys... ORPHA:63259
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Sepsis ORPHA:158668
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Pectus excavatum, Postnatal growth retardation, Prominent sternum, Coa... ORPHA:254528
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Cone-shaped e... OMIM:617088
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... ORPHA:2969
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... OMIM:211350
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad hallux, Short femoral neck... OMIM:618019
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... ORPHA:857
Liver Disease, Severe Congenital
Recurrent otitis media, Recurrent urinary tract infections, Sepsis, Cholesteatoma OMIM:619991
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Leukopenia... ORPHA:227982
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Dextrocardia
Congenital hip dislocation, Abnormal reproductive system morphology, Abnormal rib morphology, Neu... ORPHA:1666
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, Broad clavicles, Irregular menstruation, 2-3 finger syndactyly, D... OMIM:269500
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Ca... OMIM:600920
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Vaginal stricture, Vaginal dryness, Acantholysis ORPHA:95455
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Short stature, Tapered finger, Pectus ... OMIM:303600
Fanconi Anemia
Abnormal femur morphology, Neoplasm, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly... ORPHA:84
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Hypoplasia of penis, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sand... ORPHA:1507
Noonan Syndrome 1
Male infertility, Pectus excavatum of inferior sternum, Juvenile myelomonocytic leukemia, Short s... OMIM:163950
Hallermann-Streiff Syndrome
Small for gestational age, Proportionate short stature, Pectus excavatum, Cryptorchidism, Metaphy... OMIM:234100
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short stature, Sh... OMIM:134780
Simpson-Golabi-Behmel Syndrome
Hypoplasia of penis, Congenital hip dislocation, Neoplasm, Clinodactyly of the 5th finger, Hepato... ORPHA:373
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Patent ductus arteriosus ORPHA:210122
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Chronic active hepatitis OMIM:240300
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cavernous hemangioma of the face, Recurrent pneumonia, Sepsis, Acute myelomonocytic leukemia, Cav... ORPHA:99646
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Femoral bowing, Narrow pelvis b... ORPHA:83
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short stature, Decreased response to growth hormone stim... OMIM:213980
Lesch-Nyhan Syndrome
Short stature, Hip dislocation, Testicular atrophy OMIM:300322
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Aplasia of the vagina, Short ribs... OMIM:271520
Mucopolysaccharidosis, Type Iva
Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Disproportionate short... OMIM:253000
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Short finger, Thin ribs OMIM:312150
Nocardiosis
Sepsis ORPHA:31204
Aspergillosis
Abnormal long bone morphology, Abnormal rib morphology, Hematological neoplasm ORPHA:1163
Osteogenesis Imperfecta
Abnormal tibia morphology, Abnormal femur morphology, Pectus carinatum, Abnormal long bone morpho... ORPHA:666
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Disproportionate short-trunk short stature, Genu valgum, Broad ribs, Abnorm... ORPHA:583
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Fetal Akinesia Deformation Sequence 1
Hip contracture, Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Cryptorc... OMIM:208150
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Tibial bowing, Thin ribs, Slender long bone, Disproportionate short-limb sho... OMIM:259420
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Hypoplastic pubic ramus, Hypospadias, Arachnodactyly, Short hallu... ORPHA:280
Mucopolysaccharidosis, Type Ivb
Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal widening, Disproportionate short... OMIM:253010
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Osteogenesis Imperfecta, Type Xv
Short stature, Thin ribs OMIM:615220
Robinow Syndrome
Syndactyly, Brachydactyly, Small scrotum, Small for gestational age, Short stature, External geni... ORPHA:97360
Charge Syndrome
Bifid scrotum, Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Crypto... ORPHA:138
Stuve-Wiedemann Syndrome 1
Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Short stature, Clubbing, Abn... OMIM:601559
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Aicardi Syndrome
Missing ribs, Precocious puberty, Rib fusion, Small hand, Multiple lipomas, Hip dysplasia, Supern... ORPHA:50
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Beaded ribs, Bowing of the legs, Enlargem... ORPHA:89936
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Disproportionate short-trunk short st... OMIM:619698
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Short finger, Thin ribs OMIM:253290
Cole-Carpenter Syndrome 2
Short stature, Pectus excavatum, Postnatal growth retardation, Thin ribs, Narrow iliac wing OMIM:616294
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell-shaped thorax OMIM:613686
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Arachnodactyly, Pectus excavatum, Thin metatarsal cortices, Thin ribs, Slender... ORPHA:2463
Nijmegen Breakage Syndrome
Abnormality of chromosome stability ORPHA:647
1P36 Deletion Syndrome
11 pairs of ribs, Hypoplasia of penis, Short stature, Hypospadias, Camptodactyly of finger, Crypt... ORPHA:1606
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Hypospadias, Camptodactyly of finge... ORPHA:1662
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Thymus hyperplasia OMIM:619036
Klippel-Feil Syndrome 1, Autosomal Dominant
Sprengel anomaly, Abnormal rib morphology OMIM:118100
Craniometadiaphyseal Dysplasia
Broad long bones, Short stature, Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Genu varum OMIM:269300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Precocious puberty, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, Broad r... OMIM:301066
Frontometaphyseal Dysplasia 1
Carpal synostosis, Scapular winging, Bowing of the long bones, Arachnodactyly, Interphalangeal jo... OMIM:305620
Hurler Syndrome
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Abnormal rib morphology, Gr... ORPHA:93473
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Hyperparathyroidism, Short stature, Cryptorchidism... ORPHA:534
Kagami-Ogata Syndrome
Long clavicles, Coxa valga, Long fingers, Thin ribs, Bell-shaped thorax OMIM:608149
Vater/Vacterl Association
Syndactyly, Hypospadias, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of ... OMIM:192350
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Steinert Myotonic Dystrophy
Endometrial carcinoma, Brain neoplasm, Hypergonadotropic hypogonadism, Decreased response to grow... ORPHA:273
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Monosomy 9P
Hypospadias, Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postax... ORPHA:261112
Feingold Syndrome 1
Accessory spleen, Asplenia, Patent ductus arteriosus, Polysplenia, Annular pancreas OMIM:164280
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Short stature, Metaphyseal widening, Split hand, Disproportionate short-tru... OMIM:253200
Cerebrofaciothoracic Dysplasia
Short stature, Rib fusion, Narrow chest, Bifid ribs, Sprengel anomaly ORPHA:1394
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Abnormal diaphysis morphology, Overtubulated long bo... ORPHA:85184
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Broad clavicles, Pectus excavatum, Capitate-hamate fusion, ... OMIM:304150
Kagami-Ogata Syndrome
Large for gestational age, Postnatal growth retardation, Coxa valga, Bell-shaped thorax, Coat han... ORPHA:254519
Lateral Meningocele Syndrome
Umbilical hernia, Hydrocephalus, Meningocele, Short stature OMIM:130720
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Thin ribs OMIM:615368
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Spondyloepimetaphyseal Dysplasia, X-Linked
Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum... OMIM:300106
Gm1-Gangliosidosis, Type I
Intrauterine growth retardation, Severe short stature, Thickened ribs OMIM:230500
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Patent ductus arteriosus, Biliary atresia, Abdominal situs inversus, Poly... OMIM:306955
Nestor-Guillermo Progeria Syndrome
Short stature, Decreased serum leptin, Thin ribs, Growth delay, Rib osteolysis, Progressive clavi... OMIM:614008
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Rib fusion, Obesity, Hand polydactyly ORPHA:261197
Plague
Sepsis ORPHA:707
Brachytelephalangic Chondrodysplasia Punctata
Calcaneal epiphyseal stippling, Proportionate short stature, Postnatal growth retardation, Abnorm... ORPHA:79345
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Narrow chest, Broad ribs, Abno... ORPHA:1517
Congenital Myopathy 22B, Severe Fetal
Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,... OMIM:620369
Osteopathia Striata With Cranial Sclerosis
Short stature, Arachnodactyly, Pectus excavatum, Osteopathia striata, Fibular hypoplasia, Straigh... OMIM:300373
Mandibuloacral Dysplasia Progeroid Syndrome
Short stature, Sandal gap, Decreased fibular diameter, Pectus excavatum, Postnatal growth retarda... OMIM:619127
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele ORPHA:2789
Meningioma
Chromosomal breakage induced by ionizing radiation ORPHA:2495
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Short stature, Failure to thrive in infancy, Metaphyseal wid... OMIM:219800
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... OMIM:117650
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... OMIM:249000
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Short stature, Rhizomelic leg shortening, Meningocele, Rhizomelic arm sh... ORPHA:397715
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital hepatic fibrosis, Pan... ORPHA:564
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology, Small hand, Short foot, Micropenis, Thickened cortex of long bones, Broa... ORPHA:488434
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femora... OMIM:610915
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Short stature, Small for gestational age, Hypospadias, Hypo... OMIM:264090
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Radio-Renal Syndrome
Severe short stature, Hypoplasia of the radius, Abnormal rib morphology, Short palm, Brachydactyly ORPHA:3015
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Abnormal rib morphology, Bifid femur, Aplasia/hypoplasia of the ... ORPHA:2769
Cardiospondylocarpofacial Syndrome
Short stature, Tarsal synostosis, Rib fusion, Cone-shaped epiphysis, Short foot, Pseudoepiphyses,... OMIM:157800
Baller-Gerold Syndrome
Patellar hypoplasia, Midface capillary hemangioma, Hypoplasia of the ulna, Short stature, Aphalan... OMIM:218600
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Mucopolysaccharidosis, Type Iiib
Thickened ribs OMIM:252920
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Mucopolysaccharidosis, Type Iiia
Thickened ribs OMIM:252900
Zttk Syndrome
Absent gallbladder, Short stature, Rib fusion, Small hand, Growth delay, Short foot, Cervical rib... OMIM:617140
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Thin ribs, Follicular hyperkerat... OMIM:225400
Coccidioidomycosis
Abnormality of the endocrine system, Abnormality of the male genitalia, Abnormal long bone morpho... ORPHA:228123
Pontine Tegmental Cap Dysplasia
Failure to thrive, Rib fusion OMIM:614688
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Osteogenesis Imperfecta, Type Xviii
Femoral bowing, Bowing of the long bones, Thin ribs OMIM:617952
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Weill-Marchesani Syndrome 1
Short stature, Proportionate short stature, Broad phalanges of the hand, Broad ribs, Broad metaca... OMIM:277600
Cranioectodermal Dysplasia 2
Syndactyly, Short stature, Rhizomelia, Pectus excavatum, Postaxial hand polydactyly, Bile duct pr... OMIM:613610
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Short stature, Hip dysplasia OMIM:252940
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Short umbilical cord, ... ORPHA:2369
Mucopolysaccharidosis, Type Iiic
Thickened ribs OMIM:252930
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Retinal hamar... ORPHA:744
Pyknoachondrogenesis
Hypoplastic ischia, Short iliac bones, Short thorax, Abnormal iliac wing morphology, Enlarged tho... ORPHA:3003
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Weill-Marchesani Syndrome 2
Short metacarpal, Short stature, Proportionate short stature, Short metatarsal, Short finger, Bro... OMIM:608328
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Abnormal external genitalia, Hypospadias, Camptodactyly of finger, Metatarsus a... OMIM:607872
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Tetraamelia Syndrome 1
Adrenal gland agenesis OMIM:273395
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Avascular necrosis of the capital femoral epiphysis, Abnormal rib m... ORPHA:581
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia OMIM:265380
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Hydrolethalus Syndrome 1
Adrenal gland dysgenesis OMIM:236680
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Patent ductus arteriosus, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Fibular Hemimelia
Spina bifida ORPHA:93323
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Pectus excavatum, Genu valgum, Pectus carinatum, Cortical thickening of long bone... ORPHA:309282
Osteopetrosis With Renal Tubular Acidosis
Short stature, Pectus excavatum, Secondary hyperparathyroidism, Failure to thrive, Prominent floa... ORPHA:2785
22Q11.2 Deletion Syndrome
Short stature, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical he... ORPHA:567
Jacobsen Syndrome
Growth delay, Intrauterine growth retardation, Short stature, Spina bifida ORPHA:2308
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Abnormal rib morphology, Growth delay, Narrow chest, Abnormal epiphysis... ORPHA:667
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Rhizomelia, Short stature, Femoral retroversion, Bow... OMIM:610682
Neu-Laxova Syndrome 1
Hydranencephaly, Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, ... OMIM:256520
Cog1-Cdg
Rhizomelia, Coxa valga, Postnatal growth retardation, Rib fusion, Posterior rib gap, Flat acetabu... ORPHA:263508
Alagille Syndrome 1
Hypoplasia of the ulna, Abnormal rib morphology, Papillary thyroid carcinoma, Failure to thrive, ... OMIM:118450
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Short stature, Broad ischia, Diaphyseal dysplasia, Short palm, Broad ribs,... OMIM:619727
Orofaciodigital Syndrome Vi
Occipital meningocele, Short stature OMIM:277170
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Short stature, Spina bifida ORPHA:508498
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Failure to thrive in infancy, Arachnodactyly, Proportionate short stature, Ab... ORPHA:500150
Koolen-De Vries Syndrome Due To A Point Mutation
Postnatal growth retardation, Hydrocephalus, Spina bifida ORPHA:363965
17Q21.31 Microdeletion Syndrome
Postnatal growth retardation, Hydrocephalus, Spina bifida ORPHA:363958
Thrombocytopenia-Absent Radius Syndrome
Short stature, Spina bifida OMIM:274000
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Rubinstein-Taybi Syndrome 1
Short stature, Spina bifida, Postnatal growth retardation, Growth delay, Spina bifida occulta OMIM:180849
Osteopetrosis, Autosomal Recessive 7
Growth delay, Multiple rib fractures, Femur fracture OMIM:612301
Medulloblastoma
Medulloblastoma OMIM:155255
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Short stature, Camptodactyly of finger, Growth delay, Hip dysplasia, Diaphyseal t... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Short stature, Camptodactyly of finger, Growth delay, Hip dysplasia, Diaphyseal t... ORPHA:217093
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Cystic Fibrosis
Male infertility, Clubbing of fingers, Failure to thrive OMIM:219700
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Weight loss, Melanoma, Ovarian ca... ORPHA:1333
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Stillbirth, Umbilical h... OMIM:304120
Marfan Syndrome
Meningocele ORPHA:558
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Spina bifida OMIM:619480
Mowat-Wilson Syndrome
Asplenia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Decreased body weight ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Failure to thrive ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Cryptorchidism, Failure to thrive, Asplenia ORPHA:261537
Nephroblastoma
Neoplasm of the lung, Nephroblastoma, Neoplasm ORPHA:654
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567

Histopathology

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

There is no histopathology data for Brca2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Brca2.

No publications found that use IMPC mice or data for Brca2.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Brca2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Brca2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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