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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 (1012 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		Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d...	OMIM:278700
Xeroderma Pigmentosum		Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Telangiectasia, Hyperkeratosis...	ORPHA:910

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

Disease	Matching phenotypes	Source
Erythrokeratodermia Variabilis Et Progressiva 4	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:617526
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis, Fragile skin	OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Erythema, Scaling skin	OMIM:617571
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin	ORPHA:455
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:620148
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Palm...	ORPHA:530838
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma	OMIM:617524
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:615598
Mastocytosis, Cutaneous	Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:101900
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis	OMIM:607936
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis	OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis	OMIM:613943
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating total IgM, Melanoma, Basal cell carcinoma,...	OMIM:620040
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell carcinoma of the skin, Pulmonary ...	OMIM:620365
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Mal De Meleda	Erythema, Epidermal acanthosis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:87503
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis	ORPHA:79100
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis	OMIM:607602
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis, Edema	OMIM:615785
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Follicular hyperkeratosis, Facial erythema	ORPHA:3406
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Dry skin, Scaling skin	OMIM:618084
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ...	OMIM:151623
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple...	OMIM:615631
Palmoplantar Keratoderma And Congenital Alopecia 2	Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis, Facial erythema	OMIM:212360
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Corneal opacity, Abnormality of the liver, Intrauterine growth retardation, Thrombo...	ORPHA:1980
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Neoplasm, Eleva...	OMIM:300068
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	Hyperkeratosis, Erythema, Dry skin, Palmoplantar keratoderma	ORPHA:454
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orth...	OMIM:612281
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V...	ORPHA:280779
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling...	OMIM:616295
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema	OMIM:248300
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Erythema Nodosum, Familial	Erythema	OMIM:132990
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema, Eryth...	ORPHA:100057
Erythema Of Acral Regions	Erythema	OMIM:227000
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema	OMIM:219095
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Bazex Syndrome	Parakeratosis, Edema, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin	ORPHA:166113
Acral Peeling Skin Syndrome	Erythema, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Jessner Lymphocytic Infiltration Of The Skin	Cutaneous photosensitivity, Erythema	ORPHA:33314
Cutaneous Mastocytoma	Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Flushing, Dermatographic urticar...	ORPHA:79455
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Orthokeratosis, White scaling skin	OMIM:604777
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Ovarian cyst, Increased circulating cortisol level, Abnormal...	ORPHA:562
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Hepatomegaly, Normocytic anemia, Pancytopenia, Myelodysplasia, Anemia of ...	ORPHA:75564
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema, Scaling skin	ORPHA:90158
Vulvovaginal Gingival Syndrome	Parakeratosis, Erythema, Epidermal acanthosis	ORPHA:83453
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hone...	ORPHA:79395
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ...	OMIM:273250
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Erosive Pustular Dermatosis Of The Scalp	Erythema	ORPHA:222
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Sex reversal, Squamous cell carcinoma of the skin	ORPHA:85112
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Classic Mycosis Fungoides	Edema, Erythema, Skin ulcer, Hyperkeratosis, Dry skin	ORPHA:2584
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90160
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Pneumonia, Reduced...	OMIM:300400
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin	ORPHA:90159
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Hypotrichosis 6	Erythema, Follicular hyperkeratosis	OMIM:607903
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Hypogonadism, Squamous cell carcinoma of the skin, Cutaneous mela...	OMIM:610651
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Keratolytic Winter Erythema	Erythema	ORPHA:50943
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Dermatological manifestations of systemic d...	ORPHA:79147
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Cutaneous Small Vessel Vasculitis	Urticaria, Erythema, Cutis marmorata, Purpura	ORPHA:889
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Epidermal acanthosis, Cutis laxa, Scaling skin, Dry skin, Generalized hyperkeratosis	ORPHA:2269
Ectodermal Dysplasia/Skin Fragility Syndrome	Ectodermal dysplasia, Fragile skin, Scaling skin, Palmoplantar hyperkeratosis	OMIM:604536
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle	ORPHA:79481
Bathing Suit Ichthyosis	Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scal...	ORPHA:100976
Hypogonadism-Cataract Syndrome	Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti...	OMIM:240950
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos...	OMIM:615234
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Palmoplantar hyperkeratosis, Telangiectasia, Thin skin, Cutaneous photosensitivity, Fra...	ORPHA:158673
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na...	OMIM:308240
Polyembryoma	Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Neoplasm of head a...	ORPHA:180229
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratod...	OMIM:605676
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Erythema, Dry skin, Scaling skin	OMIM:614457
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema, Scaling skin	ORPHA:90156
Erythrokeratodermia Variabilis	Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivity, Dry skin	ORPHA:317
Sjögren-Larsson Syndrome	Urticaria, Hyperkeratosis, Erythema, Dry skin	ORPHA:816
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612964
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pne...	OMIM:127550
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ly...	OMIM:615559
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u...	OMIM:278740
Quinquaud Folliculitis Decalvans	Erythema	ORPHA:346
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc...	OMIM:278720
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity	ORPHA:2432
Maculopapular Cutaneous Mastocytosis	Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing	ORPHA:79457
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Hydroa Vacciniforme	Hydroa vacciniforme, Erythema, Telangiectasia of the skin, Cutaneous photosensitivity	ORPHA:330058
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
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
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Premature Ovarian Failure 17	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi...	OMIM:619146
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin	ORPHA:90368
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar...	ORPHA:2199
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering, Erythema...	ORPHA:158681
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Lupus Erythematosus Tumidus	Cutaneous photosensitivity, Scaling skin	ORPHA:90283
Dowling-Degos Disease 4	Epidermal acanthosis	OMIM:615696
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmon...	OMIM:613101
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi...	OMIM:612310
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Hematol...	ORPHA:824
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Premature Ovarian Failure 16	Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas...	OMIM:618723
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:148600
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper...	OMIM:300918
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d...	OMIM:278700
N Syndrome	Abnormality of chromosome stability, Hypospadias, Cryptorchidism, Neoplasm, Leukemia	OMIM:310465
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Psoriasis 14, Pustular	Parakeratosis, Erythema, Epidermal acanthosis, Psoriasiform dermatitis	OMIM:614204
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l...	ORPHA:399808
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis	ORPHA:703
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Ovarian Dysgenesis 5	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:617690
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis	OMIM:133200
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Dermatitis Herpetiformis	Skin vesicle, Urticaria, Erythema, Edema	ORPHA:1656
Familial Cold Autoinflammatory Syndrome 3	Dermatographic urticaria, Angioedema, Erythema, Cold urticaria	OMIM:614468
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia	ORPHA:75563
Ovarian Dysgenesis 8	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti...	OMIM:618187
Hermansky-Pudlak Syndrome	Menometrorrhagia, Weight loss, Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmona...	ORPHA:79430
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Diffuse Cutaneous Mastocytosis	Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Peau d'orange, Generalized abno...	ORPHA:79456
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae	ORPHA:64745
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri...	OMIM:614129
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Autosomal Erythropoietic Protoporphyria	Cutaneous photosensitivity, Erythema, Edema	ORPHA:79278
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Premature Ovarian Failure 2A	Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula...	OMIM:300511
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Erythema, Palmoplantar keratoderma	OMIM:606545
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis, Psoriasiform lesion, Scaling skin	ORPHA:284426
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence...	ORPHA:163976
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin, Pedal edema	ORPHA:83452
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Hyperkeratosis, Parakeratosis, Erythema, Palmoplantar keratoderma	OMIM:615821
Oculocutaneous Albinism Type 1B	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Pemphigus Vulgaris	Urticaria, Acantholysis	ORPHA:704
Megalencephaly	Macroorchidism, Truncal obesity, Long penis	ORPHA:2477
49,Xxxyy Syndrome	Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor...	ORPHA:261534
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male...	ORPHA:90790
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic...	OMIM:619938
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Dermatitis, Atopic	Keratoconus, Cataract, Facial erythema, Conjunctivitis, Pallor, Dry skin	OMIM:603165
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Growth delay, Pallor	OMIM:613561
Mycosis Fungoides	Erythema, Psoriasiform dermatitis	OMIM:254400
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S...	OMIM:278760
Bullous Impetigo	Erythema	ORPHA:36237
Immunodeficiency 20	Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent sinusitis, Recu...	OMIM:615707
Premature Ovarian Failure 14	Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f...	OMIM:618014
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl...	OMIM:229070
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Protoporphyria, Erythropoietic, 1	Erythema, Edema	OMIM:177000
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia	ORPHA:220295
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Failure to thrive, Squamous cell carcinoma of the skin, Anemia, Decreased circulating antibody level	ORPHA:79396
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hypothyroidism, Partial absence of specific antibody...	OMIM:301082
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, B-cell lym...	OMIM:619924
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Sydenham Chorea	Erythema	ORPHA:306731
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l...	ORPHA:163971
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis, Cutaneous photosensitivity, Psoriasiform lesion, Vasculitis in the skin	ORPHA:163525
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Dry skin, Scaling skin, Palmoplantar keratoderma	OMIM:618373
Myotonic Dystrophy 2	Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Type II diabetes mellitus, Elevat...	OMIM:602668
Primary Erythromelalgia	Erythema	ORPHA:90026
Ichthyosis With Confetti	Scaling skin, Palmoplantar hyperkeratosis	OMIM:609165
Fragile X Syndrome	Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism	OMIM:300624
Acute Generalized Exanthematous Pustulosis	Acantholysis, Facial edema, Scaling skin, Skin vesicle, Purpura	ORPHA:293173
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu...	ORPHA:3044
Familial Cold Urticaria	Urticaria, Erythema, Dehydration	ORPHA:47045
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin	OMIM:146700
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Atkin-Flaitz Syndrome	Macroorchidism, Obesity	ORPHA:1193
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Congenital Rubella Syndrome	Hepatomegaly, Cataract, Corneal opacity, Short stature, Splenomegaly, Jaundice, Thrombocytopenia,...	ORPHA:290
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer	ORPHA:542592
Morquio Syndrome C	Severe short stature, Corneal opacity	OMIM:252300
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, Squamous cell carci...	ORPHA:217390
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Basal cell carci...	ORPHA:363618
Partington Syndrome	Macroorchidism	ORPHA:94083
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno...	ORPHA:822
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le...	ORPHA:1359
Ichthyosis Prematurity Syndrome	Dermatographic urticaria, Epidermal acanthosis, Follicular hyperkeratosis, Polyhydramnios	OMIM:608649
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Bloom Syndrome	Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem...	OMIM:210900
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Thrombocytopenia...	OMIM:616050
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia	OMIM:153550
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis	OMIM:610227
Ataxia-Telangiectasia	Recurrent respiratory infections, Failure to thrive, Diabetes mellitus, Abnormality of chromosome...	ORPHA:100
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke...	OMIM:148700
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Dry skin, Scaling skin	OMIM:609180
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr...	ORPHA:98870
Basan Syndrome	Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:129200
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod...	OMIM:618261
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism	OMIM:300886
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Dry skin, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema	OMIM:308800
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperker...	ORPHA:79151
Galactosialidosis	Corneal opacity	ORPHA:351
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Folate-dependent fragile site at Xq28, Decreased serum insulin-like growth factor...	ORPHA:85327
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
49,Xyyyy Syndrome	Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula...	ORPHA:99330
Werner Syndrome	Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neoplasm, Acral lentiginous ...	ORPHA:902
Transgrediens Et Progrediens Palmoplantar Keratoderma	Plantar hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperk...	ORPHA:495
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Acute Radiation Syndrome	Hyperkeratosis, Scaling skin, Skin ulcer, Telangiectasia	ORPHA:454831
Ichthyosis, Congenital, Autosomal Recessive 2	Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:242100
Fragile X Syndrome	Macroorchidism, Folate-dependent fragile site at Xq28	ORPHA:908
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ...	OMIM:611590
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Growth...	ORPHA:300298
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Crypto...	OMIM:227650
Cole Disease	Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode...	OMIM:615522
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Schöpf-Schulz-Passarge Syndrome	Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm	ORPHA:50944
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Obesity	ORPHA:3077
Clark-Baraitser syndrome	Macroorchidism, Obesity	OMIM:300602
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Poikilocytosis, Prol...	OMIM:300908
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc...	OMIM:600901
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Immunodeficiency 54	Chromosome breakage, Recurrent respiratory infections, Lymphoproliferative disorder, Splenomegaly...	OMIM:609981
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa...	OMIM:613839
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se...	ORPHA:2410
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Corneal opacity, Short stature	ORPHA:2370
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Truncal obesity, Recurrent upper respiratory tract infections, Polycystic ovaries	ORPHA:284180
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Primary amenorrhea, Elevated ...	OMIM:614324
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu...	OMIM:243700
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an...	ORPHA:1959
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema	OMIM:106100
Prolidase Deficiency	Erythema, Skin ulcer, Hyperkeratosis, Cutaneous photosensitivity, Palmoplantar keratoderma, Thin ...	ORPHA:742
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Recon Progeroid Syndrome	Progeroid facial appearance, Livedo reticularis, Cutaneous photosensitivity, Scaling skin, Thin s...	OMIM:620370
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis	ORPHA:38
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g...	ORPHA:347
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperk...	OMIM:619208
Cheilitis Glandularis	Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Thromboc...	OMIM:227645
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615022
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, A...	OMIM:614470
Fanconi Anemia, Complementation Group P	Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell ...	OMIM:613951
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Winchester Syndrome	Corneal opacity	OMIM:277950
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Hepatosplenomegaly	OMIM:312500
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Fanconi Anemia, Complementation Group G	Myelodysplasia, Thrombocytopenia, Growth delay, Neutropenia, Leukemia, Anemia	OMIM:614082
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Pallor	ORPHA:56425
Peeling Skin Syndrome 1	Scaling skin	OMIM:270300
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a...	OMIM:600462
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Skin ulcer, An...	ORPHA:231226
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism, Obesity	OMIM:300055
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife...	ORPHA:3226
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Hepatomegaly, Normocytic anemia, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Follicular h...	OMIM:257980
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Gómez-López-Hernández Syndrome	Corneal opacity, Short stature	ORPHA:1532
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
46,Xy Sex Reversal 5	Sex reversal, Elevated circulating follicle stimulating hormone level	OMIM:613080
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Myelodysplasia, Anemia of in...	ORPHA:98826
Snakebite Envenomation	Ecchymosis, Angioedema, Erythema, Edema	ORPHA:449285
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression	OMIM:247100
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Optic Atrophy 1	Pallor	OMIM:165500
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema	ORPHA:284227
Pituitary Adenoma 4, Acth-Secreting	Edema, Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Stria...	OMIM:219090
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism...	ORPHA:91
Premature Ovarian Failure 1	Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation	OMIM:311360
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Patent d...	OMIM:227646
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato...	OMIM:619523
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin	ORPHA:1010
Interstitial Granulomatous Dermatitis With Arthritis	Erythema	ORPHA:79099
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Lymphoproliferative disord...	ORPHA:276
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr...	ORPHA:90674
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Skin ulcer, Multiple enchondromatosis, Neoplasm, Hemangiom...	ORPHA:296
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Squamous cell carcinoma	OMIM:613736
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Hyperhidrosis, Basal cell carcinoma, Cutaneous melanoma, Anemia	ORPHA:79406
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Patent ductus arteriosus, Erythema, Palmoplantar hyperkeratosis, Flushing	OMIM:259100
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Sialidosis Type 2	Splenomegaly, Hepatomegaly, Corneal opacity, Short stature	ORPHA:87876
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease...	ORPHA:243
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Anemia	ORPHA:318
Xeroderma Pigmentosum, Complementation Group G	Small for gestational age, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity, Short stature	ORPHA:93476
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia	OMIM:246400
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Mucolipidosis Type Iii	Corneal opacity, Short stature	ORPHA:577
Junctional Epidermolysis Bullosa Inversa	Anemia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79405
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Neonatal Inflammatory Skin And Bowel Disease	Psoriasiform dermatitis, Erythema, Generalized abnormality of skin, Scaling skin	ORPHA:294023
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Perrault Syndrome 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233400
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Growth delay, Anemia	ORPHA:100025
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema	OMIM:147060
Dermatomyositis	Recurrent respiratory infections, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, ...	ORPHA:221
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on the sur...	OMIM:301000
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Fixed Drug Eruption	Erythema, Generalized abnormality of skin	ORPHA:293812
C1Q Deficiency 2	Vasculitis in the skin, Facial erythema	OMIM:620321
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Lymphoma, Pallor	ORPHA:90036
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma	ORPHA:1473
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Skin ulcer, Palmoplantar keratoderma	ORPHA:659
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Failure to thrive, Abnormal T cell count, Abnormal B cell count, Autoimmune hemolyti...	ORPHA:331206
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Palmoplantar keratoderma, Facial erythema	OMIM:612843
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Single lineage myelodysplasia, Anemia of inadequate produc...	ORPHA:86839
Sunct Syndrome	Facial edema, Palpebral edema, Flushing, Facial erythema	ORPHA:57145
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Perioral erythema	OMIM:614328
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi...	ORPHA:276152
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Corneal opacity, Short stature, Acute leukemia	ORPHA:281090
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Small for gestational age, Elevated circulating luteinizing hormone level, Hypo...	OMIM:618419
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular h...	OMIM:615225
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Recessive Dystrophic Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Vaginal stricture, Anemia	ORPHA:79409
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia	OMIM:616959
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma	OMIM:224750
Self-Improving Dystrophic Epidermolysis Bullosa	Anemia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79411
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog...	OMIM:308750
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Hyperimmunoglobulinemia D With Periodic Fever	Acrocyanosis, Urticaria, Erythema, Purpura	ORPHA:343
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Epidermal acanthosis	OMIM:615023
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Immunoglobulin A Vasculitis	Edema, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, Vascular skin abnorm...	ORPHA:761
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, Pallor, Neutropenia, Adenocarcinoma of the ...	ORPHA:124
Proteus Syndrome	Hyperkeratosis, Epidermal acanthosis	OMIM:176920
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Chronic Mucocutaneous Candidiasis	Hyperkeratosis, Erythema, Skin ulcer	ORPHA:1334
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly	ORPHA:276575
Thrombocytopenia 5	Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly, Decre...	ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, Thrombocytopenia, Splen...	OMIM:603553
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Failure to thrive, Hypospadias	OMIM:618874
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
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276556
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr...	OMIM:202700
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Pallor, Anemia	OMIM:246450
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ...	OMIM:618165
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Hypertriglyceridemia, Ovotestis, C...	OMIM:610644
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Lymphopenia, Failure to thrive in infancy, Decreased circulatin...	OMIM:619510
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Short st...	OMIM:613673
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Trichothiodystrophy	Cryptorchidism, Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin conc...	ORPHA:33364
Fountain Syndrome	Facial edema, Erythema, Cutis marmorata	ORPHA:3219
Mpdu1-Cdg	Scaling skin	ORPHA:79323
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Postnatal growth retardation, Developmental cataract, Cutis laxa, Intrauterine g...	OMIM:616603
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Small for gestational age, Aplastic anemia, Myelodysplasia, Cryp...	ORPHA:221008
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Macroorchidism	ORPHA:324410
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly	ORPHA:276580
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Melanoma, Defective DNA repair after ultraviolet radiation damage, Gona...	OMIM:278800
Kid Syndrome	Psoriasiform dermatitis, Epidermal acanthosis, Progeroid facial appearance, Palmoplantar keratode...	ORPHA:477
Glutamine Deficiency, Congenital	Erythema	OMIM:610015
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly	ORPHA:99931
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity	ORPHA:79292
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Reduced natural killer cell co...	OMIM:615214
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Squamous cell carcinoma, Basal cell carcinoma, Hypogonadism, Decreased...	OMIM:601675
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly, Impaired ADP-...	OMIM:608233
Tufted Angioma	Purpura, Petechiae, Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial...	ORPHA:1063
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Immunodeficiency 58	Cold urticaria, Cutaneous photosensitivity, Psoriasiform lesion, Scaling skin	OMIM:618131
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Scaling skin	OMIM:606367
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:616029
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Polyhydramnios, Dehydration	OMIM:616069
Bleeding Disorder, Platelet-Type, 16	Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Hypospadias, Myelody...	OMIM:305000
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Impotence, Xerostomia, Hypohidrosis	ORPHA:43393
Grfoma	Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,...	ORPHA:97261
Alpha-Mannosidosis	Splenomegaly, Hepatomegaly, Cataract, Corneal opacity	ORPHA:61
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin	OMIM:618527
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Iga Pemphigus	Skin vesicle, Generalized abnormality of skin, Acantholysis	ORPHA:555905
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Bronchiectasis, Decreased circulating antibod...	OMIM:618108
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis,...	OMIM:224120
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Fanconi Anemia, Complementation Group I	Short stature, Astigmatism, Pallor, Neutropenia, Intrauterine growth retardation	OMIM:609053
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia, Purpura	ORPHA:3204
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Short stature, Lymphoproliferative disorder, Thrombocytopenia, Disproportionate ...	ORPHA:1830
Somatostatinoma	Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor...	ORPHA:97283
Subcorneal Pustular Dermatosis	Erythema	ORPHA:48377
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Gardner Syndrome	Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Cutis marmorata, Livedo reticularis, Telangiectasia	OMIM:615934
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Purpura, Abnormality of neutrophils, Splenomegaly, Lymphoma, Pal...	ORPHA:33226
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E...	ORPHA:97282
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia	ORPHA:90045
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia	OMIM:616435
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ...	ORPHA:101096
Ppoma	Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,...	ORPHA:97278
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Petechiae, Splenomegaly, Growth delay, Anemia, Thrombocytopenia	OMIM:611490
Gcgr-Related Hyperglucagonemia	Necrolytic migratory erythema	ORPHA:438274
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Porphyria Cutanea Tarda	Cutaneous photosensitivity, Fragile skin, Scaling skin, Poor wound healing	ORPHA:101330
Naxos Disease	Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis...	OMIM:601214
Bone Marrow Failure Syndrome 4	Rhizomelia, Short stature, Anemia, Leukopenia, Dry skin, Thrombocytopenia	OMIM:618116
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Adult-Onset Still Disease	Joint swelling, Erythema	ORPHA:829
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Corneal opacity, Short stature,...	OMIM:301056
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Sepsis In Premature Infants	Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Decreased liver ...	ORPHA:90051
Bacterial Toxic-Shock Syndrome	Ecchymosis, Scaling skin, Edema	ORPHA:36234
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyperkeratosis, Urtica...	ORPHA:2907
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis	OMIM:242300
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Trisomy 20P	Macroorchidism, Cryptorchidism, Hypospadias	ORPHA:261318
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease...	ORPHA:169154
Lig4 Syndrome	Cutaneous photosensitivity, Erythema, Telangiectasia of the skin	ORPHA:99812
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin	ORPHA:35173
Short Syndrome	Posterior embryotoxon, Severe short stature, Corneal opacity, Abnormal pupil morphology, Hypoplas...	ORPHA:3163
Pituitary Gigantism	Premature pubarche, Elevated circulating growth hormone concentration, Hyperhidrosis, Increased c...	ORPHA:99725
Darier-White Disease	Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Aplastic anemia, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous ce...	ORPHA:221016
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,...	ORPHA:300373
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Dry skin, Corneal neovasculariz...	ORPHA:163934
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Thrombocytosis, Myelodysplasia, Congenital hypoplastic anemia, ...	OMIM:105650
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Retinitis Pigmentosa 75	Pallor, Mixed astigmatism	OMIM:617023
Galactosialidosis	Conjunctival telangiectasia, Severe short stature, Hepatosplenomegaly, Opacification of the corne...	OMIM:256540
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Microscopic Polyangiitis	Cutis marmorata, Erythema, Subcutaneous hemorrhage, Skin ulcer	ORPHA:727
Xeroderma Pigmentosum	Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Telangiectasia, Hyperkeratosis...	ORPHA:910
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ovar...	ORPHA:83469
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Bronc...	OMIM:619752
Juvenile Dermatomyositis	Palpebral edema, Telangiectasia of the skin, Erythema, Skin ulcer, Cutaneous photosensitivity, Dr...	ORPHA:93672
Riddle Syndrome	Conjunctival telangiectasia, Erythema, Scaling skin, Telangiectasia	ORPHA:420741
Recessive X-Linked Ichthyosis	Dry skin, Opacification of the corneal stroma	ORPHA:461
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Pallor, Paraganglioma	ORPHA:94080
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism	OMIM:152950
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Fragile skin, Scaling skin, Follicular hyperkeratosis	ORPHA:158668
Graft Versus Host Disease	Jaundice, Scaling skin	ORPHA:39812
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Short stature, Corneal dystrophy, Sclerocornea, Skin ulcer, Microcornea, Keratoconjunct...	ORPHA:1806
Glucagonoma	Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor...	ORPHA:97280
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Proteus Syndrome	Neoplasm of the thymus, Abnormal lung lobation, Neoplasm of the central nervous system, Neoplasm,...	ORPHA:744
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Dry skin, Perianal erythema, Perioral erythema	OMIM:201100
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei...	ORPHA:3202
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Psoriasiform dermatitis, Palmoplantar keratoderma, Acantholysis	OMIM:615508
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Autosomal Recessive Cutis Laxa Type 2A	Corneal opacity, Postnatal growth retardation, Excessive wrinkled skin, Abnormal cornea morpholog...	ORPHA:357058
Hemochromatosis, Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Impotence, Pleural e...	OMIM:235200
Acrodermatitis Enteropathica	Erythema, Dry skin, Generalized abnormality of skin, Skin ulcer	ORPHA:37
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte...	ORPHA:79124
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Harel-Yoon Syndrome	Corneal opacity, Developmental cataract	OMIM:617183
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, ...	ORPHA:333
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Corneodermatoosseous Syndrome	Erythema, Palmoplantar keratoderma	ORPHA:3194
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion, Dry skin	ORPHA:2526
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Orthokeratosis	OMIM:308050
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Hemangioma, Conjunctivitis, Corneal opacity	OMIM:602562
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Drug Reaction With Eosinophilia And Systemic Symptoms	Angioedema, Erythema	ORPHA:139402
Pemphigus Erythematosus	Acantholysis	ORPHA:79480
Hennekam-Beemer Syndrome	Skin vesicle, Urticaria, Erythema, Telangiectasia of the skin	ORPHA:2135
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma, Short stature, Macronodular cirrhosis, Abnormal T cell morph...	OMIM:215250
Restrictive Dermopathy 1	Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Patent ductus arte...	OMIM:275210
Sjogren-Larsson Syndrome	Astigmatism, Short stature, Opacification of the corneal epithelium	OMIM:270200
American Trypanosomiasis	Splenomegaly, Hepatomegaly, Pallor	ORPHA:3386
Dyschondrosteosis-Nephritis Syndrome	Intrauterine growth retardation, Mesomelic short stature, Corneal opacity, Short stature	ORPHA:1765
Lethal Acantholytic Erosive Disorder	Fragile skin, Oligohydramnios, Acantholysis	ORPHA:158687
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Cataract, Corneal opacity, Severe postnatal growth retardation, Multiple lipo...	ORPHA:2399
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased...	ORPHA:263455
X-Linked Intellectual Disability, Snyder Type	Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid ac...	ORPHA:20
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma	OMIM:602540
Sialidosis Type 1	Splenomegaly, Cataract, Corneal opacity, Short stature	ORPHA:812
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Anemia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79410
Rothmund-Thomson Syndrome, Type 2	Small for gestational age, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Hypogon...	OMIM:268400
Brachyolmia Type 1, Toledo Type	Childhood-onset short-trunk short stature, Disproportionate short-trunk short stature, Opacificat...	OMIM:271630
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura	OMIM:620296
Ifap Syndrome 2	Perioral erythema	OMIM:619016
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic...	ORPHA:79644
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Congenital Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Developmental cataract, Hepatosplenomegaly, Petechiae	ORPHA:93400
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Hereditary Bullous Dystrophy, Macular Type	Growth delay, Cataract, Corneal opacity, Short stature	ORPHA:1867
Rothmund-Thomson Syndrome	Small for gestational age, Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell c...	ORPHA:2909
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity, Short stature	ORPHA:2788
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Acantholysis	ORPHA:537
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Short stature, Splenomegaly, Growth delay	OMIM:607015
Chronic Actinic Dermatitis	Cutaneous photosensitivity, Epidermal acanthosis	ORPHA:330064
Multiple Sulfatase Deficiency	Hepatomegaly, Cataract, Corneal opacity, Short stature, Splenomegaly	ORPHA:585
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my...	OMIM:160980
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Restrictive Dermopathy	Polyhydramnios, Epidermal hyperkeratosis, Patent ductus arteriosus, Scaling skin, Webbed neck, Ge...	ORPHA:1662
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Zellweger Syndrome	Hepatomegaly, Posterior embryotoxon, Cataract, Corneal opacity, Short stature, Brushfield spots, ...	ORPHA:912
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Anemia	ORPHA:329971
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc...	OMIM:620189
Lowry-Maclean Syndrome	Corneal opacity, Abnormality of the abdominal organs, Developmental glaucoma, Growth delay, Intra...	ORPHA:2409
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma	OMIM:614564
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Cerebral edema	OMIM:618321
Xp22.3 Microdeletion Syndrome	Short stature, Opacification of the corneal stroma	ORPHA:1643
Mietens Syndrome	Severe short stature, Cataract, Corneal opacity, Sclerocornea, Microcornea	ORPHA:2557
Dravet Syndrome	Pallor	ORPHA:33069
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic bronchitis...	OMIM:242860
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Delayed puberty	ORPHA:496790
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal...	ORPHA:29072
Warburg-Cinotti Syndrome	Poor wound healing, Erythema, Joint swelling, Thin skin, Follicular hyperkeratosis	OMIM:618175
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Subungual hyperkeratosis, Perianal erythema, Hyperkeratosis, Ectodermal dysplasia, Hydromyelia, S...	OMIM:308205
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Recurrent respiratory infections, Precocious puberty, Macroorchidism, Hemangioma, Failure to thrive	OMIM:619950
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Epidermal acanthosis, Jaundice, Orthokeratosis, Dry skin	OMIM:607626
Stevens-Johnson Syndrome	Erythema, Acantholysis	ORPHA:36426
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Petechiae, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:93399
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma	OMIM:308100
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis	OMIM:609638
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ...	ORPHA:249
Myopathy, Mitochondrial, And Ataxia	Growth delay, Multiple lipomas, Short stature, Pallor	OMIM:617675
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Fumarase Deficiency	Intrahepatic cholestasis, Conjunctival icterus, Cutaneous leiomyoma, Pallor, Hepatic failure, Pol...	OMIM:606812
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Telangiectasia of the skin, Skin ulcer	ORPHA:464
Tangier Disease	Splenomegaly, Hepatomegaly, Dry skin, Opacification of the corneal stroma	OMIM:205400
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Scheie Syndrome	Splenomegaly, Hepatomegaly, Corneal opacity	ORPHA:93474
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Cholangitis, Myelodysplasia, Eosinophilia, Splenomeg...	ORPHA:3260
Tangier Disease	Corneal opacity, Hepatosplenomegaly, Anemia, Dry skin, Thrombocytopenia	ORPHA:31150
Immunodeficiency 23	Erythema, Vasculitis in the skin	OMIM:615816
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Incontinentia Pigmenti	Hyperkeratosis, Erythema, Pallor	OMIM:308300
Scheie Syndrome	Corneal opacity	OMIM:607016
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Weight loss, Central hypothyroidism, Lymphocytosis, Hypoc...	ORPHA:514
Parkes Weber Syndrome	Prominent superficial blood vessels, Scaling skin, Skin ulcer	ORPHA:90307
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Hypospadias, Phimosis, Cryptorchidism, Small cell lung carc...	ORPHA:821
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Warty Dyskeratoma	Acantholysis	ORPHA:69745
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Splenomegaly, Weight loss, Infe...	ORPHA:465508
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Short stature	ORPHA:1064
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Short stature, Ocular albinism, Growth delay, Anemia, Iris hypopigment...	ORPHA:2719
Focal Dermal Hypoplasia	Patent ductus arteriosus, Erythema, Telangiectasia of the skin, Thin skin	ORPHA:2092
Schimmelpenning-Feuerstein-Mims Syndrome	Corneal opacity, Short stature, Growth delay, Basal cell carcinoma, Hemangioma	OMIM:163200
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Pallor, ...	ORPHA:276621
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Thrombocytosis, Pallor	ORPHA:134
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Cystinosis	Short stature, Corneal opacity, Portal hypertension, Delayed puberty	ORPHA:213
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Pneumonia, Eosinophilia, Autoimmune th...	ORPHA:911
Immunodeficiency, Common Variable, 8, With Autoimmunity	Psoriasiform lesion	OMIM:614700
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Neutropenia, Leukopenia, Hepatic hemangioma, Capill...	ORPHA:2330
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Corneal opacity, Short stature	OMIM:272200
Gm1-Gangliosidosis, Type Iii	Short stature, Opacification of the corneal stroma	OMIM:230650
Xfe Progeroid Syndrome	Failure to thrive, Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiat...	OMIM:610965
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph...	OMIM:619313
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ...	ORPHA:913
Chromomycosis	Abnormal lung morphology, Multiple cutaneous malignancies, Squamous cell carcinoma	ORPHA:182
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Chikungunya	Facial edema, Erythema, Pedal edema, Joint swelling, Skin vesicle, Cutaneous photosensitivity, Pe...	ORPHA:324625
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor	ORPHA:348
Oculomaxillofacial Dysostosis	Corneal opacity, Short stature	ORPHA:1794
Papillon-Lefèvre Syndrome	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Liver abscess, Squamous ...	ORPHA:678
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske...	ORPHA:653
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci...	OMIM:300942
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology	ORPHA:398189
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan...	OMIM:611881
Lathosterolosis	Hepatomegaly, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morpholo...	ORPHA:46059
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Chime Syndrome	Hyperkeratosis, Erythema, Skin ulcer	ORPHA:3474
Sanjad-Sakati Syndrome	Corneal opacity, Short stature, Postnatal growth retardation, Astigmatism, Severe intrauterine gr...	ORPHA:2323
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Hypoplasia o...	OMIM:214110
Rodrigues Blindness	Microcornea, Short stature, Sclerocornea	OMIM:268320
Bronchial Neuroendocrine Tumor	Pneumonia, Elevated circulating growth hormone concentration, Increased circulating ACTH level, A...	ORPHA:97287
Wagro Syndrome	Cataract, Corneal opacity, Multiple exostoses, Aniridia, Nephroblastoma	OMIM:612469
Schimke Immunoosseous Dysplasia	Pancytopenia, Thrombocytopenia, Disproportionate short-trunk short stature, Abnormal T cell morph...	OMIM:242900
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
De Barsy Syndrome	Cataract, Corneal opacity, Short stature, Postnatal growth retardation, Cutis laxa, Excessive wri...	ORPHA:2962
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Joint swelling, Epidermal acanthosis	OMIM:612852
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Xeroderma Pigmentosum, Complementation Group D	Melanoma, Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma, Exostoses	ORPHA:1647
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Short stature, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Gro...	ORPHA:1052
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Corneal arcus, Stomatocytosis, ...	OMIM:210250
Neurofibromatosis Type 1	Cataract, Corneal opacity, Short stature, Astrocytoma, Chronic myelogenous leukemia, Multiple lip...	ORPHA:636
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Kindler Epidermolysis Bullosa	Hyperkeratosis, Cutaneous photosensitivity, Erythema, Palmoplantar keratoderma	ORPHA:2908
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Squamous cell carcinoma, Decreased body weight, Failure to thrive, Delayed puberty, Anemia	ORPHA:89842
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, ...	ORPHA:391487
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Fetal ascites, Erythema, Cutis laxa, Facial erythema, Joint ...	OMIM:619503
Hurler Syndrome	Hepatomegaly, Corneal opacity, Short stature, Splenomegaly, Hepatosplenomegaly, Opacification of ...	OMIM:607014
Localized Scleroderma	Erythema	ORPHA:90289
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Squamous cell carcinoma	OMIM:226600
Familial Tumoral Calcinosis	Erythema	ORPHA:53715
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Opacification of the c...	OMIM:256800
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Rat-Bite Fever	Scaling skin	ORPHA:31205
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, B-cell lymphoma, Bronchitis, Pneumonia, Splenomegaly, Bron...	OMIM:619381
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Corneal opacity	ORPHA:349
Gm1 Gangliosidosis	Splenomegaly, Corneal opacity, Short stature, Hepatosplenomegaly	ORPHA:354
Adenohypophysitis	Normochromic anemia, Pallor	ORPHA:95512
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Corneal opacity, Opacification of the corneal stroma, Disproportionate short-trunk ...	OMIM:253010
Familial Dysautonomia	Abnormal peritoneum morphology, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Grow...	ORPHA:1764
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Skin ul...	ORPHA:2072
Wilson Disease	Acute hepatic failure, Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransf...	OMIM:277900
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Severe short stature, Corneal opacity, Short stature, Postnatal growth retardation,...	OMIM:253220
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Periorbital edema, Erythema, Bruising susceptibility	ORPHA:32960
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Pallor, Megalocornea, Congenital aphakia	ORPHA:137675
Behcet Syndrome	Erythema	OMIM:109650
Immunodeficiency 92	Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia...	OMIM:619652
Panhypophysitis	Normochromic anemia, Pallor	ORPHA:95513
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ...	ORPHA:221139
Tay-Sachs Disease	Pallor	OMIM:272800
Macrophage Activation Syndrome	Hypertriglyceridemia, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural kille...	ORPHA:158061
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Mednik Syndrome	Erythema	OMIM:609313
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Walker-Warburg Syndrome	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:899
Mucopolysaccharidosis Type 7	Splenomegaly, Corneal opacity, Hepatitis	ORPHA:584
Familial Mediterranean Fever	Ascites, Erythema, Pedal edema	ORPHA:342
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Coloboma, Ocular, Autosomal Dominant	Growth delay, Corneal opacity, Peters anomaly	OMIM:120200
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Microcornea, Stillbirth, Peters anomaly, Iris coloboma	OMIM:243605
Melas	Erythema	ORPHA:550
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Mosaic Trisomy 9	Asplenia, Intrauterine growth retardation, Abnormal liver lobulation, Corneal opacity	ORPHA:99776
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Squamous cell carcinoma, Hypohidrosis	OMIM:148210
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Psoriasiform lesion	ORPHA:85436
Microphthalmia With Brain And Digit Anomalies	Microcornea, Cataract, Iris coloboma, Sclerocornea	ORPHA:139471
Sheehan Syndrome	Normochromic anemia, Dry skin, Pallor	ORPHA:91355
Mucolipidosis Iii Gamma	Short stature, Opacification of the corneal stroma	OMIM:252605
Encephalocraniocutaneous Lipomatosis	Astrocytoma, Sclerocornea, Hypoplasia of the iris, Lipoma, Limbal dermoid, Multiple central nervo...	OMIM:613001
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Growth delay, Pallor, Anemia	ORPHA:667
Urachal Cyst	Erythema	ORPHA:488
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Aspartylglucosaminuria	Macroorchidism, Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Scorpion Envenomation	Pulmonary edema, Erythema, Edema, Purpura	ORPHA:466677
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Hurler Syndrome	Hepatomegaly, Corneal opacity, Short stature, Splenomegaly, Growth delay	ORPHA:93473
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor...	ORPHA:90301
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Short stature, Eosinophilia, Facial capillary hemangioma, Pancreatic c...	OMIM:274000
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
Kikuchi-Fujimoto Disease	Palpebral edema, Erythema, Vasculitis in the skin, Pleural effusion, Cutaneous photosensitivity	ORPHA:50918
Sympathetic Ophthalmia	Erythema, Macular edema	ORPHA:79098
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko...	OMIM:619488
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Corneal opacity, Facial capillary hemangioma	ORPHA:364577
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th...	OMIM:612109
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Hashimoto thyr...	ORPHA:881
Pachydermoperiostosis	Elevated circulating growth hormone concentration, Splenomegaly, Hyperhidrosis, Neoplasm of the l...	ORPHA:2796
Lathosterolosis	Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac...	OMIM:607330
Oculocerebrorenal Syndrome Of Lowe	Benign neoplasm of the central nervous system, Cataract, Corneal opacity, Short stature, Abnormal...	ORPHA:534
Blau Syndrome	Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin	ORPHA:90340
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Corneal opacity, Ectopia pupillae, Lens subluxation	ORPHA:85167
Chronic Graft Versus Host Disease	Poor wound healing, Erythema, Xerostomia, Skin ulcer, Skin vesicle, Pleural effusion, Ascites	ORPHA:99921
Gaucher Disease	Hepatomegaly, Pancytopenia, Corneal opacity, Short stature, Splenomegaly, Thrombocytopenia, Hepat...	ORPHA:355
Autosomal Dominant Cutis Laxa	Redundant neck skin, Corneal opacity, Redundant skin, Postnatal growth retardation, Developmental...	ORPHA:90348
Ablepharon Macrostomia Syndrome	Corneal opacity, Redundant skin, Corneal erosion, Growth delay, Excessive wrinkled skin, Dry skin	ORPHA:920
Chromosome 6Pter-P24 Deletion Syndrome	Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy...	OMIM:612582
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Short stature, Sclerocornea	ORPHA:2095
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ...	OMIM:620133
Pelvis-Shoulder Dysplasia	Short stature, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Aspartylglucosaminuria	Macroorchidism, Recurrent respiratory infections, Splenomegaly	ORPHA:93
Woodhouse-Sakati Syndrome	Scaling skin	ORPHA:3464
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Iris coloboma, Sclerocornea	ORPHA:77298
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Pilomatrixoma, Patent d...	ORPHA:353281
Mucopolysaccharidosis Type 1	Splenomegaly, Corneal opacity, Short stature	ORPHA:579
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Short stature, Posterior subcapsular cataract, Cutis laxa, Megalocornea, Iris co...	ORPHA:536471
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Short stature, Delayed...	ORPHA:324
Gomez-Lopez-Hernandez Syndrome	Short stature, Opacification of the corneal stroma	OMIM:601853
Mucopolysaccharidosis Type 4	Corneal opacity, Short stature	ORPHA:582
Kawasaki Disease	Palmoplantar erythema, Jaundice, Edema	ORPHA:2331
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia	ORPHA:544482
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Corneal opacity, Short stature, Splenomegaly, Disproportionate short-trunk short st...	OMIM:253200
Relapsing Polychondritis	Erythema, Purpura	ORPHA:728
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Elevated circulating aspartate aminotran...	OMIM:614866
3Mc Syndrome 3	Growth delay, Corneal opacity, Short stature	OMIM:248340
Dyggve-Melchior-Clausen Disease	Rhizomelia, Severe short stature, Corneal opacity, Disproportionate short-trunk short stature	ORPHA:239
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Abnormal T cell subset distribution, Anemia, He...	ORPHA:158048
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly, Astigmatism	ORPHA:309282
Alternating Hemiplegia Of Childhood	Pallor, Mydriasis	ORPHA:2131
Insulin-Like Growth Factor I Deficiency	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	OMIM:608747
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Squamous cell carcinoma, Leukopeni...	ORPHA:79277
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Urticaria, Hyperkeratosis, Erythema	ORPHA:2273
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Short stature	OMIM:259600
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Perianal abscess, Weight loss, Iron deficiency anemia, Anoperin...	OMIM:301074
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
3Q29 Microduplication Syndrome	Aniridia, Cataract, Iris coloboma, Sclerocornea	ORPHA:251038
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi...	OMIM:137920
Mucopolysaccharidosis Type 3	Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Opacification of the corneal stroma	ORPHA:581
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Rhizomelia, Sclerocornea, Microcornea, Ectopia pupillae	OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Neoplasm of the skeletal system, Visceral angiomatosis, Multiple lipomas, Capill...	ORPHA:2396
Mosaic Trisomy 8	Corneal opacity, Short stature	ORPHA:96061
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Opacification of the corneal stroma	OMIM:231005
Esophageal Atresia	Growth delay, Barrett esophagus, Pallor	ORPHA:1199
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Birth length less than 3rd percentile, Intrauterine growth retardation, Astigmatism, Corneal opacity	ORPHA:464311
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Buphthalmos, Pallor, Opacification of the corneal stroma, Megalocornea	OMIM:253280
Mucopolysaccharidosis Type 6	Splenomegaly, Disproportionate short-trunk short stature, Opacification of the corneal stroma	ORPHA:583
Carpenter Syndrome 1	Microcornea, Opacification of the corneal stroma, Short stature, Polysplenia	OMIM:201000
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Hepatic fibrosis, Corneal ulceration	OMIM:615273
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pneumothorax, Renal tubular epithelial necrosis, Squamous cell carcinoma, Failure to t...	ORPHA:79404
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Disproportionate short-trunk short stature, Opacification of the co...	OMIM:313400
Dyrk1A-Related Intellectual Disability Syndrome	Intrauterine growth retardation, Astigmatism, Corneal opacity, Short stature	ORPHA:464306
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Erythema, Progeroid facial appearance	OMIM:256040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Meckel Syndrome	Accessory spleen, Cataract, Pancreatic fibrosis, Sclerocornea, Asplenia, Congenital hepatic fibro...	ORPHA:564
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Redundant neck skin, Brushfield spots, O...	OMIM:214100
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Microphthalmia With Linear Skin Defects Syndrome	Erythema	ORPHA:2556
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Cataract, Sclerocornea	OMIM:614230
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Short stature, Hyperopic astigmatism	OMIM:252600
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Vascular...	ORPHA:649
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Myelodysplasia, Neutropenia	OMIM:617827
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Pilomatrixoma, Oligozoospermia, Infertility, Pulmonary hypopl...	ORPHA:3310
Osteogenesis Imperfecta	Rhizomelia, Corneal opacity, Short stature, Visceral angiomatosis, Cutis laxa, Growth delay, Intr...	ORPHA:666
Fryns Syndrome	Corneal opacity	ORPHA:2059
Cockayne Syndrome B	Hepatomegaly, Severe short stature, Postnatal growth retardation, Splenomegaly, Developmental cat...	OMIM:133540
Tbck-Related Intellectual Disability Syndrome	Corneal opacity	ORPHA:488632
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Keratoconjunctivitis, Opacification of the corneal stroma, Corneal neovas...	OMIM:158310
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Wolf-Hirschhorn Syndrome	Sclerocornea, Abnormality of the gallbladder, Abdominal situs inversus, Hemangioma, Intrauterine ...	ORPHA:280
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Disproportionate short-trunk short stature, Opacification of the corneal stroma	OMIM:253000
Larsen Syndrome	Intrauterine growth retardation, Corneal opacity, Short stature	OMIM:150250
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Fragile skin	OMIM:614748
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Mucopolysaccharidosis Type 2	Hepatomegaly, Corneal opacity, Short stature, Splenomegaly, Growth delay	ORPHA:580
Smith-Lemli-Opitz Syndrome	Cataract, Short stature, Rhizomelia, Sclerocornea, Facial capillary hemangioma, Abnormality of th...	ORPHA:818
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Corneal opacity, Facial capillary hemangioma	OMIM:608670
Microphthalmia, Syndromic 3	Cataract, Short stature, Sclerocornea, Postnatal growth retardation, Hypothalamic hamartoma	OMIM:206900
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Squamous cell carcinoma, Iron deficiency anemia, Basal cell carcinoma, Cutaneous melanoma, Delaye...	ORPHA:79408
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Pilomatrixoma, Patent d...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Hypospadias, Pneumonia, Cryptorchidism, Pilomatrixoma, Patent d...	ORPHA:353277
Phace Syndrome	Cataract, Sclerocornea, Visceral angiomatosis, Lens coloboma, Capillary hemangioma, Heterochromia...	ORPHA:42775
Floating-Harbor Syndrome	Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Epididymal cyst, Vari...	ORPHA:2044
Baller-Gerold Syndrome	Erythema	OMIM:218600
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Short stature, Splenomegaly, Hepatosplenomegaly, Growth delay	ORPHA:217085
Peters Plus Syndrome	Cataract, Corneal opacity, Short stature, Rhizomelia, Postnatal growth retardation, Microcornea, ...	ORPHA:709
Floating-Harbor Syndrome	Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele	OMIM:136140
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Short stature, Splenomegaly, Hepatosplenomegaly, Growth delay	ORPHA:217093
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Palmoplantar erythema, Patent ductus arteriosus	OMIM:612474
Cockayne Syndrome A	Hepatomegaly, Cataract, Short stature, Splenomegaly, Severe postnatal growth retardation, Opacifi...	OMIM:216400
Galloway-Mowat Syndrome 1	Cataract, Short stature, Hypoplasia of the iris, Opacification of the corneal stroma, Intrauterin...	OMIM:251300
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Splenomegaly, Cavernous hemangioma, Growth delay, Severe postnatal growth retardati...	OMIM:252500
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Short stature, Sclerocornea, Peters anomaly, Iris coloboma	OMIM:309801
Moebius Syndrome	Corneal opacity	ORPHA:570
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Postnatal growth retardation, Cavernous hemangioma o...	OMIM:268300
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acantholysis, Xerostomia, Renal tubular epithelial necrosis, Skin ulcer, Generalized abnormality ...	ORPHA:95455
Liver Disease, Severe Congenital	Failure to thrive, Pulmonary edema, Hypospadias, Pneumonia, Biliary hyperplasia, Abnormal circula...	OMIM:619991
Wiedemann-Rautenstrauch Syndrome	Cataract, Short stature, Corneal opacity, Growth delay, Severe intrauterine growth retardation, I...	ORPHA:3455
Bartsocas-Papas Syndrome 1	Dry skin, Popliteal pterygium, Opacification of the corneal stroma, Intrauterine growth retardati...	OMIM:263650
Limb Body Wall Complex	Abnormality of the liver, Lens subluxation, Corneal opacity, Iris coloboma	ORPHA:2369
Mosaic Trisomy 1	Hepatic agenesis, Opacification of the corneal stroma	ORPHA:1692
Williams Syndrome	Flat cornea, Cataract, Corneal opacity, Short stature, Redundant skin, Blue irides, Aplasia/Hypop...	ORPHA:904
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy	ORPHA:495875
Stuve-Wiedemann Syndrome 1	Premature skin wrinkling, Short stature, Opacification of the corneal stroma	OMIM:601559
Oculoectodermal Syndrome	Microcornea, Growth delay, Astigmatism, Opacification of the corneal stroma, Limbal dermoid	OMIM:600268
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Hutchinson-Gilford Progeria Syndrome	Corneal opacity, Delayed menarche, Lack of skin elasticity, Premature skin wrinkling, Corneal ulc...	ORPHA:740
Digeorge Syndrome	Short stature, Sclerocornea, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus, Cholelithi...	OMIM:188400
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Proboscis Lateralis	Microcornea, Cataract, Corneal opacity, Iris coloboma	ORPHA:141099
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Yunis-Varon Syndrome	Cataract, Short stature, Redundant neck skin, Sclerocornea, Postnatal growth retardation	ORPHA:3472
Neurocardiofaciodigital Syndrome	Cataract, Short stature, Sclerocornea	OMIM:619869
Fraser Syndrome 1	Corneal opacity	OMIM:219000
Fryns Syndrome	Opacification of the corneal stroma, Stillbirth, Ectopic pancreatic tissue, Polysplenia	OMIM:229850
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Epidermal acanthosis	ORPHA:83617
Pmm2-Cdg	Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Impaired neutro...	ORPHA:79318
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Pallor	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Yunis-Varon Syndrome	Cataract, Redundant neck skin, Sclerocornea, Growth delay, Birth length less than 3rd percentile,...	OMIM:216340
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma	OMIM:615287

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 Xpa

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 Xpa.

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

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MGI Allele	Allele Type	Produced
Xpa^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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