Gene: Xpa MGI:99135

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

xeroderma pigmentosum, complementation group A

Synonyms:

Xpac

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 Xpa mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Xpa (2 diseases)
Human diseases predicted to be associated with Xpa (1016 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Xeroderma Pigmentosum, Complementation Group A		Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous cell carcinoma of the...	OMIM:278700
Xeroderma Pigmentosum		Thin skin, Cutaneous photosensitivity, Telangiectasia, Conjunctival telangiectasia, Erythema, Tel...	ORPHA:910

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Erythrokeratodermia Variabilis Et Progressiva 4		Hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythema	OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3		Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Erythema	OMIM:617525
Ichthyosis Hystrix, Curth-Macklin Type		Scaling skin, Palmoplantar keratoderma, Hyperkeratotic papule, Fragile skin	OMIM:146590
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive		Fragile skin, Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Peeling Skin Syndrome 5		Scaling skin, Hyperkeratosis, Epidermal acanthosis	OMIM:617115
Ichthyosis, Congenital, Autosomal Recessive 14		Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, Erythema	OMIM:617571
Progressive Symmetric Erythrokeratodermia		Palmoplantar keratoderma, Erythema	ORPHA:316
Psoriasis 2		Parakeratosis, Scaling skin, Psoriasiform dermatitis, Hyperkeratosis, Epidermal acanthosis	OMIM:602723
Keratosis Palmoplantaris Striata Ii		Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Vibratory Urticaria		Facial erythema, Urticaria, Flushing	OMIM:125630
Erythrokeratodermia Variabilis Et Progressiva 2		Palmoplantar keratoderma, Erythema	OMIM:617524
Superficial Epidermolytic Ichthyosis		Thin skin, Edema, Erythema, Acantholysis, Palmoplantar keratoderma	ORPHA:455
Acral Self-Healing Collodion Baby		Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ...	ORPHA:281127
Krt1-Related Diffuse Nonepidermolytic Keratoderma		Nonepidermolytic palmoplantar hyperkeratosis, Scaling skin, Diffuse palmoplantar hyperkeratosis, ...	ORPHA:530838
Ichthyosis, Annular Epidermolytic, 1		Palmoplantar hyperkeratosis, Erythema	OMIM:607602
Peeling Skin Syndrome 2		Scaling skin, Erythema	OMIM:609796
Non-Epidermolytic Palmoplantar Keratoderma		Diffuse palmoplantar hyperkeratosis, Skin ulcer, Erythema	ORPHA:2337
Palmoplantar Keratoderma, Nagashima Type		Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:615598
Hemoglobin D Disease		Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Mastocytosis, Cutaneous		Telangiectasia macularis eruptiva perstans, Edema, Erythema, Urticaria	OMIM:154800
Acrokeratosis Verruciformis		Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:101900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome		Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly	ORPHA:46532
Peeling Skin Syndrome 4		Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:607936
Epidermolytic Hyperkeratosis		Scaling skin, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 8		Hyperkeratosis, Epidermal acanthosis, Erythema, Orthokeratosis	OMIM:613943
Li-Fraumeni Syndrome		Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo...	OMIM:151623
Familial Benign Chronic Pemphigus		Acantholysis, Hyperkeratosis, Skin vesicle, Erythema	ORPHA:2841
Angioma Serpiginosum		Vascular skin abnormality, Erythema	ORPHA:95429
Mal De Meleda		Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Ery...	ORPHA:87503
Atrophoderma Vermiculata		Abnormal epidermal morphology, Hyperkeratotic papule, Follicular hyperkeratosis, Erythema	ORPHA:79100
White Sponge Nevus 2		Edema, Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Dyskeratosis Congenita, Digenic		Anemia, Squamous cell carcinoma of the skin, Decreased circulating total IgM, Decreased testicula...	OMIM:620040
Ulerythema Ophryogenesis		Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin	ORPHA:3406
Peeling Skin Syndrome 6		Parakeratosis, Scaling skin, Dry skin, Orthokeratosis	OMIM:618084
Verrucous Hemangioma		Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Orthostatic Hypotensive Disorder, Streeten Type		Facial erythema, Bruising susceptibility	OMIM:143850
Androgen Insensitivity Syndrome		Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Neoplasm, Primar...	OMIM:300068
Anemia, Congenital Dyserythropoietic, Type Ib		Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, ...	OMIM:615631
Palmoplantar Keratoderma And Congenital Alopecia 2		Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis	OMIM:212360
Isolated Follicle Stimulating Hormone Deficiency		Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz...	ORPHA:52901
Bilateral Striopallidodentate Calcinosis		Abnormality of the liver, Corneal opacity, Hepatomegaly, Thrombocytopenia, Intrauterine growth re...	ORPHA:1980
Keratolytic Winter Erythema		Erythema	OMIM:148370
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema		Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium		Erythema	OMIM:133000
Benign Chronic Pemphigus		Erythema	OMIM:169600
Annular Erythema		Erythema	OMIM:106500
Acquired Ichthyosis		Palmoplantar keratoderma, Dry skin, Hyperkeratosis, Erythema	ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 12		White scaling skin	OMIM:617320
Peeling Skin Syndrome 3		White scaling skin	OMIM:616265
Ichthyosis, Congenital, Autosomal Recessive 6		Orthokeratosis, Parakeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma, Epidermal ...	OMIM:612281
Mal De Meleda		Perioral erythema, Congenital symmetrical palmoplantar keratosis	OMIM:248300
Cutaneous Collagenous Vasculopathy		Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ...	ORPHA:280779
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads		Scaling skin, Fragile skin, Punctate palmoplantar hyperkeratosis, Telangiectases of the cheeks, A...	OMIM:616295
Skin Fragility-Woolly Hair Syndrome		Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Fragile skin, Acan...	OMIM:607655
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema		Pharyngeal edema, Palpebral edema, Erythema, Tongue edema, Laryngeal edema, Angioedema, Urticaria...	ORPHA:100057
Spermatogenic Failure 77		Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn...	OMIM:620103
Diamond-Blackfan Anemia 19		Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Erythema Nodosum, Familial		Erythema	OMIM:132990
46,Xy Sex Reversal 1		Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse...	OMIM:400044
Cutaneous Photosensitivity And Colitis, Lethal		Early cutaneous photosensitivity, Erythema	OMIM:219095
Bazex Syndrome		Parakeratosis, Edema, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma	ORPHA:166113
Erythema Of Acral Regions		Erythema	OMIM:227000
Tumor Predisposition Syndrome 1		Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu...	OMIM:614327
Acral Peeling Skin Syndrome		Scaling skin, Excessive wrinkling of palmar skin, Erythema	ORPHA:263534
Jessner Lymphocytic Infiltration Of The Skin		Cutaneous photosensitivity, Erythema	ORPHA:33314
Cutaneous Mastocytoma		Telangiectasia macularis eruptiva perstans, Darier's sign, Peau d'orange, Dermatographic urticari...	ORPHA:79455
Cutaneous Neuroendocrine Carcinoma		Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo...	ORPHA:79140
Mccune-Albright Syndrome		Precocious puberty, Abnormal testis morphology, Cutaneous myxoma, Hyperplasia of the Leydig cells...	ORPHA:562
46,Xy Partial Gonadal Dysgenesis		Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le...	ORPHA:251510
Ichthyosis, Congenital, Autosomal Recessive 5		Orthokeratosis, Parakeratosis, White scaling skin, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:604777
Premature Ovarian Failure 8		Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia		Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ...	OMIM:228300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency		Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Spermatogenic Failure 28		Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated...	OMIM:618086
Vulvovaginal Gingival Syndrome		Parakeratosis, Epidermal acanthosis, Erythema	ORPHA:83453
Idiopathic Localized Lipodystrophy		Scaling skin, Reduced subcutaneous adipose tissue, Erythema	ORPHA:90158
Acquired Idiopathic Sideroblastic Anemia		Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy...	ORPHA:75564
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome		Squamous cell carcinoma of the skin, Sex reversal	ORPHA:85112
Keratoderma Hereditarium Mutilans With Ichthyosis		Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis...	ORPHA:79395
46,Xy Sex Reversal 11		Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration...	OMIM:273250
Epidermodysplasia Verruciformis, Susceptibility To, 5		Lymphopenia, Squamous cell carcinoma of the skin, T lymphocytopenia, Verrucae	OMIM:618309
Erosive Pustular Dermatosis Of The Scalp		Erythema	ORPHA:222
Adrenocortical Carcinoma		Elevated serum 11-deoxycortisol, Increased serum estradiol, Hyperaldosteronism, Increased urinary...	ORPHA:1501
Xeroderma Pigmentosum, Complementation Group B		Squamous cell carcinoma of the skin, Hypogonadism, Basal cell carcinoma, Neoplasm, Cutaneous mela...	OMIM:610651
Infantile Digital Fibromatosis		Parakeratosis, Hyperkeratosis, Epidermal acanthosis	ORPHA:199267
Classic Mycosis Fungoides		Skin ulcer, Edema, Erythema, Hyperkeratosis, Dry skin	ORPHA:2584
Pressure-Induced Localized Lipoatrophy		Reduced subcutaneous adipose tissue, Erythema	ORPHA:90160
Severe Combined Immunodeficiency, X-Linked		Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating total IgM, Reduced natural kil...	OMIM:300400
Amyloidosis, Primary Localized Cutaneous, 1		Scaling skin, Dry skin	OMIM:105250
Panniculitis-Induced Localized Lipodystrophy		Reduced subcutaneous adipose tissue, Vasculitis in the skin, Erythema	ORPHA:90159
Transient Erythroblastopenia Of Childhood		Transient erythroblastopenia, Anemia	OMIM:227050
Hypotrichosis 6		Follicular hyperkeratosis, Erythema	OMIM:607903
Dermatofibrosarcoma Protuberans		Skin ulcer, Erythema	ORPHA:31112
Drug-Induced Localized Lipodystrophy		Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Fetal Cytomegalovirus Syndrome		Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Premature Ovarian Failure 10		Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas...	OMIM:612885
Hypogonadism-Cataract Syndrome		Male hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Hypogona...	OMIM:240950
Spermatogenic Failure 75		Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,...	OMIM:619949
Keratolytic Winter Erythema		Erythema	ORPHA:50943
Familial Reactive Perforating Collagenosis		Dermatological manifestations of systemic disorders, Abnormal epidermal morphology, Hyperkeratoti...	ORPHA:79147
Premature Ovarian Failure 7		Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l...	OMIM:612964
Autoimmune Hemolytic Anemia, Cold Type		Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor	ORPHA:228312
Ectodermal Dysplasia/Skin Fragility Syndrome		Scaling skin, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin	OMIM:604536
Corneal Dystrophy, Endothelial, X-Linked		Corneal dystrophy, Corneal opacity, Band keratopathy	OMIM:300779
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease		Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, H...	ORPHA:158057
Leydig Cell Hypoplasia		Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea...	ORPHA:755
Cutaneous Small Vessel Vasculitis		Purpura, Cutis marmorata, Erythema, Urticaria	ORPHA:889
Bathing Suit Ichthyosis		Palmoplantar hyperkeratosis, Parakeratosis, Scaling skin, Palmoplantar scaling skin, Epidermal ac...	ORPHA:100976
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome		Cutis laxa, Scaling skin, Generalized hyperkeratosis, Epidermal acanthosis, Dry skin	ORPHA:2269
Pemphigus Foliaceus		Skin vesicle, Scaling skin, Erythema, Acantholysis, Psoriasiform dermatitis	ORPHA:79481
Pyruvate Kinase Deficiency Of Red Cells		Jaundice, Intrauterine growth retardation, Erythroid hyperplasia, Reticulocytosis, Pallor, Decrea...	OMIM:266200
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development		Scaling skin, Hyperkeratosis, Dry skin, Erythema	OMIM:614457
Localized Dystrophic Epidermolysis Bullosa, Acral Form		Thin skin, Cutaneous photosensitivity, Telangiectasia, Palmoplantar hyperkeratosis, Fragile skin,...	ORPHA:158673
Lymphoproliferative Syndrome, X-Linked, 1		Lymphoma, Burkitt lymphoma, Recurrent respiratory infections, Reduced natural killer cell activit...	OMIM:308240
Centrifugal Lipodystrophy		Scaling skin, Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema	ORPHA:90156
Anemia, Hypochromic Microcytic, With Iron Overload 2		Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Growth delay, Hepatomegaly, El...	OMIM:615234
Spermatogenic Failure 14		Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Elastosis Perforans Serpiginosa		Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Epidermodysplasia Verruciformis, Susceptibility To, 2		Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation		Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In...	ORPHA:399805
Erythrokeratodermia Variabilis		Cutaneous photosensitivity, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratosis, Dry skin	ORPHA:317
Sjögren-Larsson Syndrome		Hyperkeratosis, Dry skin, Erythema, Urticaria	ORPHA:816
Ovarian Dysgenesis 9		Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Dyskeratosis Congenita, Autosomal Dominant 1		Leukopenia, Anemia, Squamous cell carcinoma of the skin, Myelodysplasia, Hepatic necrosis, Inters...	OMIM:127550
Lung Cancer		Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma	OMIM:211980
Corneal Dystrophy, Posterior Polymorphous, 2		Corneal dystrophy, Corneal opacity	OMIM:609140
Autoimmune Lymphoproliferative Syndrome, Type Iii		Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr...	OMIM:615559
Ovarian Dysgenesis 4		Elevated circulating follicle stimulating hormone level, Decreased body weight, Decreased serum e...	OMIM:616185
Quinquaud Folliculitis Decalvans		Erythema	ORPHA:346
Xeroderma Pigmentosum, Complementation Group E		Melanoma, Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous...	OMIM:278740
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency		Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease...	ORPHA:90796
Maculopapular Cutaneous Mastocytosis		Darier's sign, Dermatographic urticaria, Flushing, Erythema, Generalized abnormality of skin	ORPHA:79457
Keratosis Pilaris Atrophicans		Erythema	OMIM:604093
Xeroderma Pigmentosum, Complementation Group C		Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma, Cutaneous melanoma,...	OMIM:278720
Acute Myelomonocytic Leukemia		Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Macrosomia-Microphthalmia-Cleft Palate Syndrome		Corneal opacity, Hepatomegaly, Microcornea	ORPHA:2432
Premature Ovarian Failure 6		Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:612310
Ovarian Dysgenesis 10		Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir...	OMIM:619834
Epidermolytic Palmoplantar Keratoderma		Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma...	ORPHA:2199
Hypotrichosis Simplex Of The Scalp		Parakeratosis, Scaling skin, Hyperkeratosis, Epidermal acanthosis	ORPHA:90368
Palmoplantar Keratoderma And Congenital Alopecia 1		Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar erythema	OMIM:104100
Functioning Gonadotropic Adenoma		Impotence, Anterior hypopituitarism, Decreased female libido, Oligospermia, Increased circulating...	ORPHA:91348
Lupus Erythematosus Tumidus		Scaling skin, Cutaneous photosensitivity	ORPHA:90283
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema		Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Skin fragility with n...	ORPHA:158681
Premature Ovarian Failure 18		Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Premature Ovarian Failure 17		Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm...	OMIM:619146
Granulomatous Slack Skin		Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Ovarian Dysgenesis 5		Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El...	OMIM:617690
Dowling-Degos Disease 4		Epidermal acanthosis	OMIM:615696
Spermatogenic Failure, X-Linked, 4		Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Spastic Paraplegia-Precocious Puberty Syndrome		Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome		Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,...	ORPHA:168563
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease		Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr...	OMIM:613101
Polyembryoma		Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron...	ORPHA:180229
Partial Chromosome Y Deletion		Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M...	ORPHA:1646
Diethylstilbestrol Syndrome		Decreased fertility in females, Breast carcinoma, Abnormal testis morphology, Small for gestation...	ORPHA:1916
46,Xy Sex Reversal 3		Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
Perrault Syndrome 3		Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:614129
Corneal Dystrophy-Perceptive Deafness Syndrome		Corneal dystrophy, Corneal opacity	ORPHA:1490
Olmsted Syndrome, X-Linked		Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta...	OMIM:300918
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency		Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency		Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:289548
Primary Myelofibrosis		Anemia, Petechiae, Extramedullary hematopoiesis, Purpura, Pancytopenia, Hepatosplenomegaly, Heman...	ORPHA:824
Hemophagocytic Lymphohistiocytosis, Familial, 3		Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytope...	OMIM:608898
Beta-Thalassemia		Anemia, Hepatitis, Skin ulcer, Pallor, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal h...	ORPHA:848
Cataract-Microcornea Syndrome		Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy	ORPHA:1377
Breath-Holding Spells		Iron deficiency anemia, Pallor	OMIM:607578
Ring Chromosome Y Syndrome		Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou...	ORPHA:261529
Palmoplantar Keratoderma, Punctate Type Ia		Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis	OMIM:148600
Premature Ovarian Failure 16		Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced...	OMIM:618723
Psoriasis 14, Pustular		Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Erythema	OMIM:614204
Bullous Pemphigoid		Psoriasiform dermatitis, Erythema, Urticaria	ORPHA:703
Erythrokeratodermia Variabilis Et Progressiva 1		Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis	OMIM:133200
Xeroderma Pigmentosum, Complementation Group A		Defective DNA repair after ultraviolet radiation damage, Melanoma, Squamous cell carcinoma of the...	OMIM:278700
Anemia, Sideroblastic, 1		Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ...	OMIM:300751
Non-Functioning Pituitary Adenoma		Impotence, Anterior hypopituitarism, Decreased female libido, Adrenal insufficiency, Increased ci...	ORPHA:91349
Huriez Syndrome		Squamous cell carcinoma of the skin	OMIM:181600
Premature Ovarian Failure 15		Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul...	OMIM:618096
X-Linked Intellectual Disability, Van Esch Type		Absence of secondary sex characteristics, Decreased testicular size, Type II diabetes mellitus, D...	ORPHA:163976
X-Linked Sideroblastic Anemia		Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor	ORPHA:75563
Familial Cold Autoinflammatory Syndrome 3		Cold urticaria, Angioedema, Dermatographic urticaria, Erythema	OMIM:614468
Premature Ovarian Failure 13		Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen...	OMIM:617442
Porokeratosis		Squamous cell carcinoma of the skin	ORPHA:79358
Dermatitis Herpetiformis		Edema, Skin vesicle, Erythema, Urticaria	ORPHA:1656
Diffuse Cutaneous Mastocytosis		Darier's sign, Peau d'orange, Dermatographic urticaria, Flushing, Scaling skin, Generalized abnor...	ORPHA:79456
Complete Androgen Insensitivity Syndrome		Increased serum estradiol, Increased serum testosterone level, Germ cell neoplasia, Abnormal circ...	ORPHA:99429
Immunodeficiency 14B, Autosomal Recessive		Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop...	OMIM:619281
Erythroleukemia, Familial, Susceptibility To		Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Hepatomega...	OMIM:133180
Autosomal Erythropoietic Protoporphyria		Edema, Cutaneous photosensitivity, Erythema	ORPHA:79278
Male Infertility With Teratozoospermia Due To Single Gene Mutation		Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema		Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Ovarian Dysgenesis 8		Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim...	OMIM:618187
Precocious Puberty, Central, 1		Isosexual precocious puberty, Elevated circulating follicle stimulating hormone level, Hypothyroi...	OMIM:176400
Pruritic Urticarial Papules And Plaques Of Pregnancy		Facial erythema, Palmoplantar erythema, Striae distensae, Skin vesicle, Parakeratosis	ORPHA:64745
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency		Parakeratosis, Scaling skin, Psoriasiform lesion	ORPHA:284426
Premature Ovarian Failure 9		Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon...	OMIM:615724
Aarskog-Scott Syndrome		Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Failure to t...	OMIM:305400
Familial Male-Limited Precocious Puberty		Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility	ORPHA:3000
Premature Ovarian Failure 2A		Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate...	OMIM:300511
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis		Parakeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema	OMIM:615821
Ichthyosis, Congenital, Autosomal Recessive 3		Palmoplantar keratoderma, Hyperkeratosis, Erythema	OMIM:606545
Oculocutaneous Albinism Type 1B		Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Central Precocious Puberty		Isosexual precocious puberty, Hypothalamic hamartoma, Premature thelarche, Increased circulating ...	ORPHA:759
Aicardi-Goutieres Syndrome 5		Scaling skin, Dry skin	OMIM:612952
Melanoma-Pancreatic Cancer Syndrome		Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom...	OMIM:606719
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome		Corneal dystrophy, Corneal opacity	ORPHA:3177
49,Xxxyy Syndrome		Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni...	ORPHA:261534
Mycosis Fungoides		Psoriasiform dermatitis, Erythema	OMIM:254400
Dermatitis, Atopic		Conjunctivitis, Facial erythema, Pallor, Cataract, Keratoconus, Dry skin	OMIM:603165
Complex Regional Pain Syndrome		Pedal edema, Edema of the upper limbs, Dry skin, Erythema	ORPHA:83452
Partial Androgen Insensitivity Syndrome		Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula...	ORPHA:90797
Pemphigus Vulgaris		Acantholysis, Urticaria	ORPHA:704
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2		Sideroblastic anemia, Elevated hepatic transaminase, Pallor, Growth delay, Hepatomegaly	OMIM:613561
Hermansky-Pudlak Syndrome		Squamous cell carcinoma of the skin, Weight loss, Neutropenia, Basal cell carcinoma, Pulmonary fi...	ORPHA:79430
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse		Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis	OMIM:615735
Premature Ovarian Failure 20		Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:619938
Immunodeficiency 20		Reduced natural killer cell count, Reduced natural killer cell activity, Recurrent sinusitis, Rec...	OMIM:615707
Bullous Impetigo		Erythema	ORPHA:36237
X-Linked Intellectual Disability, Cilliers Type		Absence of secondary sex characteristics, Decreased testicular size, Decreased serum testosterone...	ORPHA:163971
Protoporphyria, Erythropoietic, 1		Edema, Erythema	OMIM:177000
Xeroderma Pigmentosum, Complementation Group F		Decreased body weight, Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell...	OMIM:278760
Premature Ovarian Failure 14		Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618014
Chromosome Xq27.3-Q28 Duplication Syndrome		Hypogonadism, Small for gestational age, Decreased testicular size, Decreased serum testosterone ...	OMIM:300869
Beta-Thalassemia Intermedia		Cholelithiasis, Cirrhosis, Abnormality of the liver, Decreased liver function, Increased HbA2 hem...	ORPHA:231222
Asbestos Intoxication		Abnormal pulmonary interstitial morphology, Malignant mesothelioma, Subpleural honeycombing, Lung...	ORPHA:2302
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form		Failure to thrive, Anemia, Squamous cell carcinoma of the skin, Decreased circulating antibody level	ORPHA:79396
Glaucoma 3, Primary Congenital, D		Primary congenital glaucoma, Corneal opacity, Ectopia lentis	OMIM:613086
Dermoids Of Cornea		Corneal opacity	OMIM:304730
Immunodeficiency 102		Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper ...	OMIM:301082
Premature Ovarian Failure 11		Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Xeroderma Pigmentosum-Cockayne Syndrome Complex		Cachexia, Melanoma, Squamous cell carcinoma of the skin, Basal cell carcinoma	ORPHA:220295
Wiskott-Aldrich Syndrome 2		Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma		Scaling skin, Palmoplantar keratoderma, Conjunctival telangiectasia, Dry skin	OMIM:618373
Immunodeficiency 105		Increased B cell count, Reduced natural killer cell count, Decreased circulating IgG level, T lym...	OMIM:619924
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia		Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Ichthyosis With Confetti		Scaling skin, Palmoplantar hyperkeratosis	OMIM:609165
Sydenham Chorea		Erythema	ORPHA:306731
Combined Immunodeficiency Due To Dock8 Deficiency		T lymphocytopenia, Squamous cell carcinoma of the vulva, B lymphocytopenia, Squamous cell carcino...	ORPHA:217390
Primary Erythromelalgia		Erythema	ORPHA:90026
Ichthyosis Vulgaris		Dry skin, Absent keratohyalin granules	OMIM:146700
Familial Cold Urticaria		Urticaria, Erythema, Dehydration	ORPHA:47045
Oral Erosive Lichen		Dry skin, Erythema	ORPHA:31142
Morquio Syndrome C		Severe short stature, Corneal opacity	OMIM:252300
Oculocutaneous Albinism Type 1A		Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Fanconi Renotubular Syndrome 5		Pulmonary fibrosis, Lung adenocarcinoma, Emphysema	OMIM:618913
Necrobiosis Lipoidica		Fragile skin, Skin ulcer, Erythema, Telangiectasia of the skin	ORPHA:542592
Congenital Rubella Syndrome		Anemia, Short stature, Aplasia/Hypoplasia of the iris, Jaundice, Cataract, Corneal opacity, Hepat...	ORPHA:290
Myotonic Dystrophy 2		Decreased circulating total IgM, Hypogonadism, Type II diabetes mellitus, Oligospermia, Elevated ...	OMIM:602668
Lattice Corneal Dystrophy Type I		Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys...	ORPHA:98964
Intellectual Developmental Disorder, X-Linked 14		Macroorchidism	OMIM:300062
Thanatophoric Dysplasia, Glasgow Variant		Cataract, Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Hereditary Spherocytosis		Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti...	ORPHA:822
Lmna-Related Cardiocutaneous Progeria Syndrome		Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Basal cell carcinoma, Abnorm...	ORPHA:363618
Leishmaniasis		Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Elevated hepatic transaminase, Pa...	ORPHA:507
Ichthyosis Prematurity Syndrome		Polyhydramnios, Epidermal acanthosis, Follicular hyperkeratosis, Dermatographic urticaria	OMIM:608649
Basan Syndrome		Palmoplantar keratoderma, Epidermal acanthosis, Ectodermal dysplasia	OMIM:129200
Seborrhea-Like Dermatitis With Psoriasiform Elements		Hyperkeratosis, Epidermal acanthosis	OMIM:610227
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse		Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ...	OMIM:148700
Autoinflammation With Infantile Enterocolitis		Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Di...	OMIM:616050
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome		Decreased testicular size, Breast aplasia, Eunuchoid habitus, Type I diabetes mellitus, Elevated ...	ORPHA:3044
Werner Syndrome		Abnormal testis morphology, Melanoma, Neoplasm, Pulmonary artery stenosis, Slender build, Cutaneo...	ORPHA:902
Hemoglobin E Disease		Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Chromosome 5Q Deletion Syndrome		Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia, Myelodysplasia	OMIM:153550
Congenital Dyserythropoietic Anemia Type Iii		Anemia, Short stature, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:98870
Hb Bart'S Hydrops Fetalis		Anemia, Pallor, Hepatomegaly, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Intellectual Developmental Disorder, X-Linked 2		Macroorchidism	OMIM:300428
Congenital Disorder Of Glycosylation, Type If		Scaling skin, Hyperkeratosis, Dry skin	OMIM:609180
Lymphoproliferative Syndrome 3		Reduced natural killer cell count, Decreased circulating antibody level, Hepatosplenomegaly, Lymp...	OMIM:618261
Hypergonadotropic Hypogonadism-Cataract Syndrome		Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin...	ORPHA:2410
Singleton-Merten Syndrome 2		Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Keratosis Follicularis Spinulosa Decalvans, X-Linked		Facial erythema, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin	OMIM:308800
Rosaï-Dorfman Disease		Erythema	ORPHA:158014
Galactosialidosis		Corneal opacity	ORPHA:351
Acute Peripheral Arterial Occlusion		Leukocytosis, Pallor	ORPHA:90064
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency		Macroorchidism, Breast carcinoma, Abnormality of female external genitalia, Increased circulating...	ORPHA:90790
Carney Complex		Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Cutaneous myxoma, Hepatocellul...	ORPHA:1359
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia		Hemolytic anemia, Short stature, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepa...	OMIM:611590
Acrokeratosis Verruciformis Of Hopf		Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Epidermal acan...	ORPHA:79151
Schöpf-Schulz-Passarge Syndrome		Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm	ORPHA:50944
Ovarian Dysgenesis 3		Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo...	OMIM:614324
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency		Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease...	ORPHA:95699
Frasier Syndrome		Nephroblastoma, Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased c...	ORPHA:347
49,Xyyyy Syndrome		Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre...	ORPHA:99330
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome		Macroorchidism	ORPHA:85320
Ichthyosis, Congenital, Autosomal Recessive 2		Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis, Erythema	OMIM:242100
Ovarian Dysgenesis 1		Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Thiel-Behnke Corneal Dystrophy		Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor...	ORPHA:98960
Elliptocytosis 1		Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly	OMIM:611804
Prolactin Deficiency With Obesity And Enlarged Testes		Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Intellectual Developmental Disorder, X-Linked, Syndromic 11		Macroorchidism, Obesity	OMIM:300238
Mucous Membrane Pemphigoid		Corneal opacity	ORPHA:46486
Transgrediens Et Progrediens Palmoplantar Keratoderma		Facial erythema, Plantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Diffuse pa...	ORPHA:495
Oculocutaneous Albinism		Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:55
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts		Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Elevated hepatic transa...	ORPHA:300298
Nthl1-Related Attenuated Familial Adenomatous Polyposis		Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam...	ORPHA:454840
Cole Disease		Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, E...	OMIM:615522
Megalencephaly		Macroorchidism, Long penis, Truncal obesity	ORPHA:2477
Anemia, Sideroblastic, 2, Pyridoxine-Refractory		Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia	OMIM:205950
Autoimmune Hemolytic Anemia		Lymphoma, Hemolytic anemia, Pallor, Abnormal leukocyte morphology, Splenomegaly	ORPHA:98375
Legius Syndrome		Nephroblastoma, Multiple lipomas, Neoplasm of the central nervous system, Neurofibromas, Acute mo...	ORPHA:137605
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency		Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pall...	OMIM:300908
Oculocutaneous Albinism Type 2		Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79432
Immunodeficiency 81		Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ...	OMIM:619374
Hemoglobin-Delta locus		Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Methylmalonic Acidemia With Homocystinuria, Type Cbld		Pallor	ORPHA:79283
Larsen-Like Osseous Dysplasia-Short Stature Syndrome		Corneal opacity, Short stature, Intrauterine growth retardation	ORPHA:2370
46,Xx Sex Reversal 1		Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula...	OMIM:400045
Alpha-Thalassemia		Anemia, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemog...	ORPHA:846
Cataract 21, Multiple Types		Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor...	OMIM:610202
Cheilitis Glandularis		Neoplasm, Squamous cell carcinoma, Abnormal salivary gland morphology	ORPHA:1221
Peripheral Cone Dystrophy		Pallor	OMIM:609021
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency		Megaloblastic anemia, Jaundice, Pancytopenia, Pallor, Hepatomegaly, Increased mean corpuscular vo...	OMIM:613839
Mental retardation, x-linked, syndromic, Turner type		Macroorchidism	OMIM:300706
Fanconi Anemia, Complementation Group A		Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Male infertility, Hypergonado...	OMIM:227650
Prolidase Deficiency		Thin skin, Cutaneous photosensitivity, Skin ulcer, Hyperkeratosis, Erythema, Palmoplantar keratod...	ORPHA:742
Nut Midline Carcinoma		Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom...	ORPHA:443167
Angioedema, Hereditary, 1		Intestinal edema, Pharyngeal edema, Erythema, Periorbital edema, Laryngeal edema, Angioedema	OMIM:106100
47,Xyy Syndrome		Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Increased circulat...	ORPHA:8
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive		Reduced natural killer cell count, Decreased circulating total IgM, Bronchiectasis, Squamous cell...	OMIM:243700
Beta-Thalassemia Major		Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Hepatocell...	ORPHA:231214
Thiamine-Responsive Megaloblastic Anemia Syndrome		Thrombocytopenia, Megaloblastic anemia, Short stature, Pallor	ORPHA:49827
Leydig Cell Hypoplasia, Type I		Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Evans Syndrome		Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pallor, Autoimmune thr...	ORPHA:1959
Immunodeficiency 21		Anemia, Myeloid leukemia, Reduced natural killer cell count, Cervical intraepithelial neoplasia, ...	OMIM:614172
Cone-Rod Dystrophy 11		Pallor	OMIM:610381
Epidermodysplasia Verruciformis, Susceptibility To, 3		Squamous cell carcinoma, Basal cell carcinoma, Verrucae	OMIM:618267
Dominant Beta-Thalassemia		Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Skin ulcer, Decreased mean corp...	ORPHA:231226
Ichthyosis, Congenital, Autosomal Recessive 7		Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615022
Acrokeratoelastoidosis Of Costa		Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratosis	ORPHA:38
Fanconi Anemia, Complementation Group E		Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Hypergonadotropic hypogonadis...	OMIM:600901
Rare Cutaneous Lupus Erythematosus		Cutaneous photosensitivity, Urticaria, Nail bed telangiectasia, Telangiectasia of the skin, Psori...	ORPHA:535
Olmsted Syndrome 2		Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Palmoplantar...	OMIM:619208
Ras-Associated Autoimmune Leukoproliferative Disorder		Lymphoma, Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating...	OMIM:614470
Atkin-Flaitz Syndrome		Macroorchidism, Obesity	ORPHA:1193
46,Xy Sex Reversal 5		Elevated circulating follicle stimulating hormone level, Sex reversal	OMIM:613080
Isolated Splenogonadal Fusion		Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Bilateral cryptorchi...	ORPHA:457083
Reticuloendotheliosis, X-Linked		Jaundice, Anemia, Hepatosplenomegaly	OMIM:312500
Beta-Thalassemia, Dominant Inclusion Body Type		Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome		Short stature, Pallor	ORPHA:2786
Winchester Syndrome		Corneal opacity	OMIM:277950
Bloom Syndrome		Lymphoma, Decreased fertility in females, Decreased circulating total IgM, Bronchiectasis, Small ...	OMIM:210900
Peeling Skin Syndrome 1		Scaling skin	OMIM:270300
Cold Agglutinin Disease		Splenomegaly, Hemolytic anemia, Hepatomegaly, Pallor	ORPHA:56425
Partington Syndrome		Macroorchidism	ORPHA:94083
Fanconi Anemia, Complementation Group G		Anemia, Myelodysplasia, Growth delay, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Systemic Mastocytosis With Associated Hematologic Neoplasm		Lymphoma, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic l...	ORPHA:98849
Cyanosis, Transient Neonatal		Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia	OMIM:613977
Fanconi Anemia, Complementation Group C		Anemia, Reticulocytopenia, Small for gestational age, Pancytopenia, Hypergonadotropic hypogonadis...	OMIM:227645
Deafness-Lymphedema-Leukemia Syndrome		Pallor, Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Hepatomegaly, Throm...	ORPHA:3226
Punctate Palmoplantar Keratoderma Type 1		Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin...	ORPHA:79501
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1		Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Pallor, Delayed puberty, Growth...	OMIM:600462
Odontoonychodermal Dysplasia		Palmoplantar erythema, Orthokeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Eryth...	OMIM:257980
Myelofibrosis		Pallor, Purpura, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Schopf-Schulz-Passarge Syndrome		Squamous cell carcinoma, Poroma, Apocrine hidrocystoma, Basal cell carcinoma	OMIM:224750
Gómez-López-Hernández Syndrome		Corneal opacity, Short stature	ORPHA:1532
Acromesomelic Dysplasia 3		Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe...	OMIM:609441
Autoimmune Hemolytic Anemia, Warm Type		Chronic lymphatic leukemia, Jaundice, Pallor, Autoimmune hemolytic anemia, Lymphoproliferative di...	ORPHA:90033
Intellectual Developmental Disorder, X-Linked, Syndromic 32		Macroorchidism	OMIM:300886
Deafness-Infertility Syndrome		Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
46,Xx Gonadal Dysgenesis		Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat...	ORPHA:243
Polyarteritis Nodosa		Skin ulcer, Cutis marmorata, Erythema	ORPHA:767
Ollier Disease		Anemia, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Skin ulcer, Visceral angiomatosis, He...	ORPHA:296
Refractory Anemia		Neutropenia, Myelodysplasia, Single lineage myelodysplasia, Normocytic anemia, Erythroid hypoplas...	ORPHA:98826
Tempi Syndrome		Transudative pleural effusion, Ascites, Telangiectasia, Facial erythema	ORPHA:284227
Immunodeficiency 54		Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insufficiency, Fai...	OMIM:609981
Generalized Juvenile Polyposis/Juvenile Polyposis Coli		Duodenal polyposis, Anemia, Multiple gastric polyps, Small intestinal polyposis, Growth delay, An...	ORPHA:329971
X-Linked Corneal Dermoid		Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Optic Atrophy 1		Pallor	OMIM:165500
X-Linked Intellectual Disability, Shashi Type		Macroorchidism, Obesity	ORPHA:85286
Snakebite Envenomation		Edema, Angioedema, Erythema, Ecchymosis	ORPHA:449285
Premature Ovarian Failure 1		Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Perrault Syndrome 1		Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233400
Cutis Laxa, Autosomal Dominant 3		Cutis laxa, Premature skin wrinkling, Developmental cataract, Corneal opacity, Intrauterine growt...	OMIM:616603
17Q11.2 Microduplication Syndrome		Macroorchidism	ORPHA:139474
Clark-Baraitser syndrome		Macroorchidism, Obesity	OMIM:300602
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome		Macroorchidism, Obesity	ORPHA:3077
Anemia, Sideroblastic, 3, Pyridoxine-Refractory		Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome...	OMIM:616860
Benign Paroxysmal Torticollis Of Infancy		Pallor	ORPHA:71518
Recessive Dystrophic Epidermolysis Bullosa Inversa		Anemia, Vaginal stricture, Squamous cell carcinoma, Basal cell carcinoma, Urethral stricture, Cut...	ORPHA:79409
Disseminated Superficial Actinic Porokeratosis		Squamous cell carcinoma	ORPHA:79152
Pituitary Adenoma 4, Acth-Secreting		Facial erythema, Thin skin, Striae distensae, Purpura, Bruising susceptibility, Ecchymosis, Edema...	OMIM:219090
Anemia, Sideroblastic, 5		Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Refractory anemia wi...	OMIM:619523
Familial Multinodular Goiter		Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol...	ORPHA:276399
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige		Acantholysis, Palmoplantar keratoderma, Psoriasiform dermatitis, Orthokeratosis	OMIM:615508
Imerslund-Gräsbeck Syndrome		Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Interstitial Granulomatous Dermatitis With Arthritis		Erythema	ORPHA:79099
Corneal Dystrophy, Reis-Bucklers Type		Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy	OMIM:608470
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency		Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency		Lymphoma, Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mi...	ORPHA:276
Epidermodysplasia Verruciformis, Susceptibility To, 4		Facial erythema	OMIM:618307
Intellectual Developmental Disorder, X-Linked 21		Macroorchidism	OMIM:300143
Anterior Segment Dysgenesis 7		Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph...	OMIM:269400
Retinitis Pigmentosa 27		Pallor	OMIM:613750
Macular Dystrophy, Corneal		Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Cornea Plana 2, Autosomal Recessive		Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea	OMIM:217300
Atkin-Flaitz Syndrome		Macroorchidism, Obesity	OMIM:300431
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease		Recurrent cutaneous abscess formation, Squamous cell carcinoma	OMIM:613736
Xp22.13P22.2 Duplication Syndrome		Macroorchidism, Polycystic ovaries, Recurrent upper respiratory tract infections, Truncal obesity	ORPHA:284180
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1		Patent ductus arteriosus, Palmoplantar hyperkeratosis, Flushing, Redundant skin, Erythema	OMIM:259100
Late-Onset Junctional Epidermolysis Bullosa		Hyperhidrosis, Anemia, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma	ORPHA:79406
Immunodeficiency 103, Susceptibility To Fungal Infections		Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia		Facial erythema, Scaling skin, Palmoplantar keratoderma, Poor wound healing, Dry skin	ORPHA:1010
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome		Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Cancer-Associated Retinopathy		Pancreatic adenocarcinoma, Thymoma, Prostate cancer, Neoplasm of the pancreas, Malignant genitour...	ORPHA:71505
Methemoglobinemia And Ambiguous Genitalia		Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co...	OMIM:250790
Fanconi Anemia, Complementation Group P		Anemia, Squamous cell carcinoma, Pancytopenia, Cryptorchidism	OMIM:613951
Cushing Syndrome Due To Ectopic Acth Secretion		Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Decreased eosinophil co...	ORPHA:99889
Acute Erythroid Leukemia		Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Refractory anemia with ringed sideroblasts	ORPHA:318
Hurler-Scheie Syndrome		Splenomegaly, Corneal opacity, Hepatomegaly, Short stature	ORPHA:93476
Fragile X Syndrome		Congenital macroorchidism, Macroorchidism, postpubertal	OMIM:300624
45,X/46,Xy Mixed Gonadal Dysgenesis		Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu...	ORPHA:1772
Letterer-Siwe Disease		Anemia, Jaundice, Pallor, Hepatosplenomegaly, Thrombocytopenia, Neutropenia	OMIM:246400
Neonatal Inflammatory Skin And Bowel Disease		Scaling skin, Psoriasiform dermatitis, Generalized abnormality of skin, Erythema	ORPHA:294023
Fanconi Anemia, Complementation Group D2		Patent ductus arteriosus, Anemia, Reticulocytopenia, Leukemia, Small for gestational age, Pancyto...	OMIM:227646
Mucolipidosis Type Iii		Corneal opacity, Short stature	ORPHA:577
Spinocerebellar Degeneration And Corneal Dystrophy		Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Xeroderma Pigmentosum, Complementation Group G		Small for gestational age, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Junctional Epidermolysis Bullosa Inversa		Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma, Anemia	ORPHA:79405
Kcnq2-Related Epileptic Encephalopathy		Facial erythema, Cerebral edema, Pallor	ORPHA:439218
Myoectodermal Gonadal Dysgenesis Syndrome		Small for gestational age, Hypoplastic labia majora, Clitoral hypoplasia, Elevated circulating lu...	OMIM:618419
Sialidosis Type 2		Splenomegaly, Corneal opacity, Hepatomegaly, Short stature	ORPHA:87876
Gardner Syndrome		Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Thyroid nodule, Papillary thyroid...	ORPHA:79665
Female Infertility Due To Oocyte Meiotic Arrest		Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A...	ORPHA:488191
Pearson Marrow-Pancreas Syndrome		Anemia, Hepatic failure, Reticulocytopenia, Refractory sideroblastic anemia, Punctate keratitis, ...	OMIM:557000
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant		Erythema	OMIM:147060
Immunodeficiency 15B		Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	OMIM:615592
Sunct Syndrome		Facial erythema, Palpebral edema, Flushing, Facial edema	ORPHA:57145
Dermatomyositis		Lymphoma, Breast carcinoma, Abnormal pulmonary interstitial morphology, Weight loss, Lung adenoca...	ORPHA:221
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome		Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Hyperkeratosis Lenticularis Perstans		Squamous cell carcinoma, Basal cell carcinoma	ORPHA:409
Intellectual Developmental Disorder, X-Linked, Syndromic 13		Male hypogonadism, Macroorchidism, Obesity	OMIM:300055
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques		Palmoplantar keratoderma, Skin ulcer, Erythema	ORPHA:659
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency		Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lymphocyte prolife...	ORPHA:331206
Perrault Syndrome 4		Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:615300
Hemoglobin C-Beta-Thalassemia Syndrome		Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Mixed-Type Autoimmune Hemolytic Anemia		Lymphoma, Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Multiple Endocrine Neoplasia Type 4		Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita...	ORPHA:276152
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant		Facial erythema, Palmoplantar keratoderma	OMIM:612843
Opsoclonus-Myoclonus Syndrome		Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,...	ORPHA:1183
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability		Corneal opacity, Cataract, Iris coloboma, Posterior embryotoxon	ORPHA:1473
Fixed Drug Eruption		Generalized abnormality of skin, Erythema	ORPHA:293812
Inflammatory Skin And Bowel Disease, Neonatal, 1		Perianal erythema, Perioral erythema	OMIM:614328
Leber Congenital Amaurosis 14		Pallor	OMIM:613341
Hypogonadism, Male		Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis	OMIM:241100
Palmoplantar Carcinoma, Multiple Self-Healing		Ectodermal dysplasia, Parakeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Follicular h...	OMIM:615225
Wiskott-Aldrich Syndrome		Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Thrombocy...	OMIM:301000
Syndromic Recessive X-Linked Ichthyosis		Testicular seminoma, Corneal opacity, Short stature, Acute leukemia	ORPHA:281090
Refractory Anemia With Excess Blasts		Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Abnormal ...	ORPHA:86839
Spermatogenic Failure, X-Linked, 2		Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Alpha-Heavy Chain Disease		Lymphoma, Anemia, Growth delay, Hepatomegaly, Splenomegaly	ORPHA:100025
Hypotrichosis And Recurrent Skin Vesicles		Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
X-Linked Endothelial Corneal Dystrophy		Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology	ORPHA:293621
Xeroderma Pigmentosum Variant		Melanoma, Squamous cell carcinoma, Basal cell carcinoma	ORPHA:90342
Aromatase Deficiency		Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me...	ORPHA:91
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2		Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Increased mean corpuscular volume, ...	OMIM:619041
Retinitis Pigmentosa And Erythrocytic Microcytosis		Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor	OMIM:616959
Self-Improving Dystrophic Epidermolysis Bullosa		Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma, Anemia	ORPHA:79411
Wilson Disease		Anemia, Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h...	ORPHA:905
Fragile X Syndrome		Macroorchidism	ORPHA:908
Hyperimmunoglobulinemia D With Periodic Fever		Acrocyanosis, Purpura, Erythema, Urticaria	ORPHA:343
Grfoma		Increased circulating prolactin concentration, Neoplasm of the thymus, Parathyroid adenoma, Weigh...	ORPHA:97261
Stickler Syndrome Type 2		Cataract, Corneal opacity	ORPHA:90654
Nodular Non-Suppurative Panniculitis		Edema, Erythema	ORPHA:33577
Keratitis, Hereditary		Keratitis, Opacification of the corneal stroma	OMIM:148190
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia		Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo...	OMIM:308700
Corneal Dystrophy, Posterior Polymorphous, 1		Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog...	OMIM:122000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome		Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Drug-Induced Autoimmune Hemolytic Anemia		Autoimmune hemolytic anemia, Splenomegaly, Pallor	ORPHA:90037
Von Hippel-Lindau Syndrome		Pancreatic cysts, Renal cell carcinoma, Neoplasm of the pancreas, Retinal capillary hemangioma, P...	OMIM:193300
Proteus Syndrome		Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Megalocornea		Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri...	OMIM:309300
Immunoglobulin A Vasculitis		Skin ulcer, Purpura, Bruising susceptibility, Edema, Erythema, Vascular skin abnormality, Angioed...	ORPHA:761
Lujan-Fryns Syndrome		Macroorchidism	ORPHA:776
Corneal Dystrophy, Fuchs Endothelial, 3		Corneal opacity, Corneal guttata, Corneal stromal edema	OMIM:613267
Hemophagocytic Lymphohistiocytosis, Familial, 2		Leukopenia, Anemia, Reduced natural killer cell activity, Pancytopenia, Hepatosplenomegaly, Failu...	OMIM:603553
Ichthyosis, Congenital, Autosomal Recessive 9		Hyperkeratosis, Epidermal acanthosis, Orthokeratosis	OMIM:615023
Immunodeficiency 97 With Autoinflammation		Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,...	OMIM:619802
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency		Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Hepatomegaly, Pallor	ORPHA:276575
Fetal Parvovirus Syndrome		Anemia, Thrombocytopenia, Intrauterine growth retardation	ORPHA:295
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus		Decreased fertility, Decreased circulating progesterone, Streak ovary, Decreased serum estradiol,...	ORPHA:572333
Proteasome-Associated Autoinflammatory Syndrome 4		Edema, Erythema	OMIM:619183
Blackfan-Diamond Anemia		Acute myeloid leukemia, Myelodysplasia, Osteosarcoma, Thrombocytopenia, Normochromic anemia, Aden...	ORPHA:124
Squamous Cell Carcinoma, Head And Neck		Squamous cell carcinoma	OMIM:275355
Neutropenia, Severe Congenital, 5, Autosomal Recessive		Leukopenia, Anemia, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Sp...	OMIM:615285
Neutropenia, Severe Congenital, 1, Autosomal Dominant		Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome		Pancreatic islet-cell hyperplasia, Pallor	ORPHA:276608
Corneal Dystrophy And Perceptive Deafness		Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Pituitary Adenoma 1, Multiple Types		Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact...	OMIM:102200
Familial Hemophagocytic Lymphohistiocytosis		Anemia, Hypertriglyceridemia, Reduced natural killer cell activity, Decreased circulating antibod...	ORPHA:540
Hyperinsulinism Due To Ucp2 Deficiency		Diffuse pancreatic islet hyperplasia, Hepatomegaly, Pallor	ORPHA:276556
Chronic Mucocutaneous Candidiasis		Hyperkeratosis, Skin ulcer, Erythema	ORPHA:1334
Vipoma		Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul...	ORPHA:97282
Ataxia-Telangiectasia		Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Acute lymphoblastic leukemia, Decrea...	OMIM:208900
Mpdu1-Cdg		Scaling skin	ORPHA:79323
Somatostatinoma		Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul...	ORPHA:97283
Anemia, Hypochromic Microcytic, With Iron Overload 1		Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra...	OMIM:206100
Kallmann Syndrome With Spastic Paraplegia		Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea...	OMIM:308750
Anemia, Congenital Dyserythropoietic, Type Iv		Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Short statur...	OMIM:613673
Rothmund-Thomson Syndrome Type 1		Hypothyroidism, Anemia, Hypogonadism, Myelodysplasia, Small for gestational age, Premature ovaria...	ORPHA:221008
Apc-Related Attenuated Familial Adenomatous Polyposis		Neoplasm of the pancreas, Esophageal carcinoma, Thyroid nodule, Papillary thyroid carcinoma, Brea...	ORPHA:247806
Congenital Hereditary Endothelial Dystrophy Type Ii		Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co...	ORPHA:293603
Hemochromatosis, Type 1		Impotence, Azoospermia, Hepatocellular carcinoma, Pleural effusion, Testicular atrophy, Diabetes ...	OMIM:235200
Immunodeficiency 85 And Autoimmunity		Reduced natural killer cell count, T lymphocytopenia, Decreased circulating total IgM, Lymphopeni...	OMIM:619510
Optic Atrophy 7 With Or Without Auditory Neuropathy		Pallor	OMIM:612989
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency		Anemia, Hepatomegaly, Pallor	OMIM:246450
Fountain Syndrome		Cutis marmorata, Erythema, Facial edema	ORPHA:3219
Gangliocytoma		Hyperhidrosis, Adrenocorticotropic hormone excess, Neoplasm of the central nervous system, Impote...	ORPHA:251937
Ppoma		Increased circulating prolactin concentration, Parathyroid adenoma, Weight loss, Increased circul...	ORPHA:97278
Anterior Segment Dysgenesis 2		Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor...	OMIM:610256
Primary Lateral Sclerosis, Juvenile		Pallor	OMIM:606353
Limbal Stem Cell Deficiency		Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin...	ORPHA:171673
Isolated Thyroid-Stimulating Hormone Deficiency		Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h...	ORPHA:90674
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome		Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser...	ORPHA:2232
Kid Syndrome		Scaling skin, Progeroid facial appearance, Psoriasiform dermatitis, Palmoplantar keratoderma, Epi...	ORPHA:477
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