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Gene: Krt1 MGI:96698

Gene Summary

Name:

keratin 1

Synonyms:

Krt-2.1, Krt2-1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.00×10^-10
abnormal lung morphology	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased effector memory T-helper cell number	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.49×10^-09
increased spleen weight	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.50×10^-05
enlarged heart	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small epididymis	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD4-positive, CD25-positive, alpha-beta regulatory T cell number	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.23×10^-08
enlarged thymus	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased effector memory CD8-positive, alpha-beta T cell number	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.52×10^-08
abnormal epididymis morphology	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
thick ventricular wall	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.08×10^-05
decreased NK cell number	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.91×10^-05
abnormal thymus morphology	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD8-positive, naive alpha-beta T cell number	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	6.13×10^-11
abnormal spleen morphology	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating chloride level	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	3.56×10^-06
abnormal seminal vesicle morphology	Krt1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Hind Leg and Hip

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

18 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

18 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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Human diseases caused by Krt1 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 Krt1 (11 diseases)
Human diseases predicted to be associated with Krt1 (1338 diseases)

The table below shows human diseases associated to Krt1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Ichthyosis, Annular Epidermolytic, 2	Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk...	OMIM:620148
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Epidermal acanthosis, Palmoplantar hyperkeratosis,...	OMIM:113800
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Scaling skin,...	ORPHA:530838
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic palmoplantar hyperkeratosis	OMIM:600962
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosifor...	ORPHA:312
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis	ORPHA:79503
Keratosis Palmoplantaris Striata Iii	Palmoplantar keratoderma	OMIM:607654
Striate Palmoplantar Keratoderma	Palmoplantar keratoderma	ORPHA:50942
Palmoplantar Keratoderma, Epidermolytic, 2	Palmoplantar hyperkeratosis	OMIM:620411

The table below shows human diseases predicted to be associated to Krt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hyperkeratosis-Hyperpigmentation Syndrome	Papule, Irregular hyperpigmentation, Multiple cafe-au-lait spots, Hyperkeratosis	ORPHA:1336
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Darier Disease	Thickened skin, Plantar pits, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrok...	ORPHA:218
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Erythema migrans, Parakeratosis, Generalized reticulate brown pigmentat...	ORPHA:158681
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Erythrokeratoderma ''En Cocardes''	Papule, Hyperkeratosis, Abnormality of skin pigmentation	ORPHA:315
Acral Peeling Skin Syndrome	Erythema, Skin erosion, Excessive wrinkling of palmar skin, Ichthyosis, Hyperpigmentation of the ...	ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, Congenital nonbullous icht...	OMIM:617571
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Insulin-Resistance Syndrome Type A	Subcutaneous nodule, Generalized hyperpigmentation, Hyperkeratosis	ORPHA:2297
Familial Benign Chronic Pemphigus	Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis	ORPHA:2841
Epidermolysis Bullosa Simplex 1C, Localized	Milia, Hyperkeratosis	OMIM:131800
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Ichthyosis, Annular Epidermolytic, 2	Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk...	OMIM:620148
Congenital Panfollicular Nevus	Skin nodule, Hyperkeratosis, Verrucous papule	ORPHA:139414
Palmoplantar Keratoderma, Norrbotten Recessive Type	Papule, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis, Macule	OMIM:615537
Dowling-Degos Disease 4	Epidermal acanthosis, Papule, Hypergranulosis	OMIM:615696
Dowling-Degos Disease	Hyperkeratotic papule, Inguinal freckling, Palmar pits, Erythematous papule, Epidermoid cyst, Hyp...	ORPHA:79145
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Ichthyosis, Annular Epidermolytic, 1	Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Erythematous plaque, Ichthyosis, Palm...	OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous...	ORPHA:737
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Verrucous Hemangioma	Skin plaque, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Papule, Spotty hyperpigmentation, Milia, Mixed hypo- and hyperpigmentation of the skin, Hypomelan...	ORPHA:79399
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Epidermal acanthosis, Hyperke...	OMIM:607936
Lichen Planus Pemphigoides	Skin vesicle, Hypopigmented streaks, Hyperkeratosis	ORPHA:254478
Idiopathic Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Scleroderma, Morphea, Hyperpigmentation of the skin, Scal...	ORPHA:90158
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperke...	OMIM:145250
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Cutis laxa, Skin plaque, Epiderm...	ORPHA:79148
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Palmar pits, Reticulated skin pigmentation	OMIM:615674
Epidermolytic Hyperkeratosis 1	Congenital bullous ichthyosiform erythroderma, Epidermal acanthosis, Palmoplantar hyperkeratosis,...	OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 13	Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Infantile Digital Fibromatosis	Skin nodule, Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Psoriasis 2	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis	ORPHA:735
Acrokeratosis Verruciformis	Verrucous papule, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acan...	OMIM:101900
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h...	OMIM:620507
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Skin erosion, Hypopigmentation of the skin, Nevus, Atrophic scars, Milia, Hyperpigmentation of th...	ORPHA:89838
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Erythematous papule, Spotty hyperpigmentation	ORPHA:79147
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Atypical scarring of skin, Keloids, Erythematous papule, Localized skin le...	ORPHA:79410
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Epidermal acanthosis, Scaling ...	OMIM:612281
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Scaling skin,...	ORPHA:530838
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Follicular hyperkeratosis, Hyperkeratosis, Axillary and groin hyperpigment...	ORPHA:69125
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Pruritic Urticarial Papules And Plaques Of Pregnancy	Erythematous papule, Urticarial plaque, Striae distensae, Erythematous plaque, Parakeratosis, Pal...	ORPHA:64745
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Macule, Freckli...	ORPHA:241
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Abnormal epidermal morphology, Hypoplastic pilosebaceous units, ...	ORPHA:79100
Peeling Skin Syndrome 6	Parakeratosis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Bazex Syndrome	Palmoplantar keratoderma, Lip hyperpigmentation, Parakeratosis, Acanthosis nigricans, Scaling ski...	ORPHA:166113
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Cutaneous Mastocytoma	Thickened skin, Erythema, Skin erosion, Erythematous papule, Skin nodule, Hyperpigmented papule, ...	ORPHA:79455
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Skin erosion, Reduced epidermal extracellular matrix protein 1 protein expression...	OMIM:247100
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hy...	ORPHA:38
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Epidermal acanthosis, Scaling skin, Generalized...	ORPHA:2269
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Epidermal acanthosis...	OMIM:604777
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Mottled pigmentation, Hypermelanotic macule, Milia, Hypomelanotic macule, ...	ORPHA:79397
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Pemphigus Foliaceus	Erythema, Skin erosion, Erythematous plaque, Skin vesicle, Scaling skin, Acantholysis, Serpiginou...	ORPHA:79481
Wells Syndrome	Skin vesicle, Edema	ORPHA:901
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Increased circulating ferritin con...	OMIM:619313
Acral Self-Healing Collodion Baby	Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Parana Hard Skin Syndrome	Thickened skin, Generalized hyperpigmentation, Hyperkeratosis	ORPHA:2812
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Dry skin, Facial erythema, Follicular...	ORPHA:3406
Palmoplantar Keratoderma, Nonepidermolytic	Nonepidermolytic palmoplantar hyperkeratosis	OMIM:600962
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Lymphopenia, Abnormal B cell count, Decre...	OMIM:615615
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Aquagenic Palmoplantar Keratoderma	Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, White papule, Skin plaque, Excessive ski...	ORPHA:498359
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Epidermal acanthosis, Hyperk...	OMIM:617525
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	ORPHA:90368
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Skin plaque, Epiderma...	ORPHA:79151
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Mal De Meleda	Erythema, Palmoplantar keratoderma, Lichenoid skin lesion, Ichthyosis, Epidermal acanthosis, None...	ORPHA:87503
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Scaling skin, Epidermal a...	ORPHA:100976
Peeling Skin Syndrome 3	Erythema, White scaling skin	OMIM:616265
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Ichthyosis	OMIM:146700
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Acrokeratosis, Mottled pigmentation	OMIM:620199
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Dry skin, Hypomelanotic macule, Freckling, Scaling skin, Hypermelanotic...	OMIM:618373
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Scaling skin	OMIM:105250
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Reduced ...	OMIM:301082
Erythema Elevatum Diutinum	Skin nodule, Skin vesicle	ORPHA:90000
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,...	OMIM:615024
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:613102
Pemphigoid Gestationis	Skin vesicle	ORPHA:63275
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin	ORPHA:455
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Amyloidosis, Primary Localized Cutaneous, 3	Hypopigmented macule, Dry skin, Generalized hyperpigmentation, Hypermelanotic macule	OMIM:617920
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches, Macule	ORPHA:2435
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Recurrent respiratory infections, Neutropenia, Abnormal T cell...	OMIM:615214
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hypopigmented m...	OMIM:615522
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, ...	OMIM:616295
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Generalized hyperkerat...	OMIM:133200
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Papule, Hyperkeratosis	ORPHA:454
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co...	OMIM:617514
Iga Pemphigus	Skin erosion, Skin vesicle, Skin plaque, Acantholysis, Annular cutaneous lesion	ORPHA:555905
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul...	OMIM:616050
Epidermolysis Bullosa Dystrophica, Pretibial	Atrophic scars, Hyperkeratosis	OMIM:131850
Pemphigus Erythematosus	Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,...	ORPHA:79480
Darier-White Disease	Palmar pits, Plantar pits, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Hyper...	OMIM:124200
Immunodeficiency 20	Reduced natural killer cell count, Recurrent respiratory infections, Recurrent viral upper respir...	OMIM:615707
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, E...	OMIM:300918
Basan Syndrome	Epidermal acanthosis, Milia, Hypermelanotic macule, Palmoplantar keratoderma	OMIM:129200
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Papule, Skin ulcer	ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Palmoplantar keratoderma, Ichthyosis, Hypergranulosis	OMIM:615022
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonbullous ichthyosiform...	OMIM:614457
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Psoriasiform lesion, Erythematous plaque, Parakeratosis, Intermittent generalized erythematous pa...	ORPHA:284426
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Skin plaque, Subcutaneous nodule, Papule, Hyperkeratosis	ORPHA:89843
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous...	OMIM:173200
Acute Generalized Exanthematous Pustulosis	Skin vesicle, Hyperpigmentation of the skin, Scaling skin, Acantholysis, Purpura	ORPHA:293173
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosifor...	ORPHA:312
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Combined Immunodeficiency, X-Linked	Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:312863
Classic Mycosis Fungoides	Erythema, Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Dry skin, Skin pla...	ORPHA:2584
Ichthyosis With Confetti	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis, Scalin...	OMIM:609165
Acute Radiation Syndrome	Hypopigmentation of the skin, Skin ulcer, Dermal atrophy, Hyperpigmentation of the skin, Scaling ...	ORPHA:454831
Dermatitis Herpetiformis	Erythema, Skin vesicle, Macule, Edema	ORPHA:1656
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis	ORPHA:79503
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Diffuse palmoplantar hyperkeratosis, Dermal atrophy, Hypopigmentation of the skin	OMIM:617294
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Lichen Planopilaris	Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Papule, Hyperkeratosis	ORPHA:525
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Atrophic scars, Milia, Scarring alopecia of scalp, Aplasia cutis congen...	ORPHA:79402
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar keratoderma, Palmoplantar erythema, Hyperpigmentation of the skin, Plantar hyperkera...	OMIM:104100
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, ...	OMIM:611926
Diabetes Mellitus, Transient Neonatal, 1	Dehydration	OMIM:601410
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Erythrokeratodermia Variabilis	Erythema, Irregular hyperpigmentation, Dry skin, Patchy palmoplantar hyperkeratosis, Macule, Hype...	ORPHA:317
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle	ORPHA:257
Porphyria Variegata	Thickened skin, Localized skin lesion, Hypopigmentation of the skin, Skin erosion, Milia, Skin ve...	ORPHA:79473
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Uv-Sensitive Syndrome 1	Dry skin, Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Perianal abscess, B lymphocytopenia, Recurrent respiratory inf...	OMIM:618108
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Punctate palmoplantar hyperkeratosis,...	OMIM:131960
Proteus Syndrome	Nevus, Epidermal nevus, Epidermal acanthosis, Depigmentation/hyperpigmentation of skin, Hyperkera...	OMIM:176920
Pyoderma Gangrenosum	Atrophic scars, Papule, Skin vesicle, Skin ulcer	ORPHA:48104
Hennekam-Beemer Syndrome	Thickened skin, Erythema, Irregular hyperpigmentation, Generalized hyperpigmentation, Skin vesicl...	ORPHA:2135
Immunodeficiency 104	Pneumonia, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating...	OMIM:613313
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun...	ORPHA:276
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoimmune hemolytic anemia, L...	ORPHA:444463
Striate Palmoplantar Keratoderma	Palmoplantar keratoderma	ORPHA:50942
Keratosis Palmoplantaris Striata Iii	Palmoplantar keratoderma	OMIM:607654
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Uv-Sensitive Syndrome 3	Dry skin, Freckling	OMIM:614640
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Sjögren-Larsson Syndrome	Erythema, Dry skin, Generalized hyperpigmentation, Ichthyosis, Abnormality of retinal pigmentatio...	ORPHA:816
Familial Keratoacanthoma	Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer	ORPHA:493
Chronic Hiccup	Dehydration	ORPHA:396
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Palmoplantar keratoderma	OMIM:620415
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Papule, Dehydration	OMIM:616069
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Increased proportion of transi...	OMIM:615513
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Hyperkeratosis	OMIM:610227
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Warty Dyskeratoma	Localized skin lesion, Erythematous papule, Skin-colored papule, Acrokeratosis, Epidermal thicken...	ORPHA:69745
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Hyperkalemia, Abnormal circulati...	ORPHA:90794
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Vulvovaginal Gingival Syndrome	Parakeratosis, Skin erosion, Epidermal acanthosis, Erythema	ORPHA:83453
Ectodermal Dysplasia/Skin Fragility Syndrome	Palmoplantar hyperkeratosis, Scaling skin	OMIM:604536
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, Reduced natura...	OMIM:619752
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Drug-Induced Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Irregular hyperpigmentation, Palmoplantar keratoderma, ...	ORPHA:2897
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Generalized ichthyosis, Hyperpigmentation of the skin, Follicular hyperkera...	OMIM:608649
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Atrophic scars, Milia, Aplasia cutis congenita, Abnormality of skin pigmentation	ORPHA:79411
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera...	ORPHA:2200
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous icht...	OMIM:615023
Ethanolaminosis	Cardiomegaly	OMIM:227150
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Ep...	OMIM:619208
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Dehydration	OMIM:251850
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Recurrent bronchiti...	OMIM:300853
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Immunodeficiency 48	Pneumonia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohema...	OMIM:269840
Hypotrichosis With Juvenile Macular Degeneration	Melanocytic nevus, Hyperkeratosis, Freckling	ORPHA:1573
Subacute Cutaneous Lupus Erythematosus	Dermal atrophy, Psoriasiform lesion, Hyperkeratosis, Annular cutaneous lesion	ORPHA:163525
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Aicardi-Goutieres Syndrome 5	Dry skin, Scaling skin	OMIM:612952
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Night Blindness, Congenital Stationary, Type 1C	Dry skin, Abnormality of skin pigmentation	OMIM:613216
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Subcutaneous nodule, Hyperkeratosis	OMIM:618339
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Chronic bronchitis, T lymphocytopenia, Bronchiectasis	OMIM:242860
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Neonatal death	OMIM:602199
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Immunodeficiency 15A	Decreased proportion of memory B cells, Cutaneous abscess, Decreased proportion of CD8-positive T...	OMIM:618204
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Rothmund-Thomson Syndrome, Type 1	Cafe-au-lait spot, Hyperkeratosis	OMIM:618625
Diffuse Cutaneous Mastocytosis	Thickened skin, Skin erosion, Mixed hypo- and hyperpigmentation of the skin, Scaling skin	ORPHA:79456
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Scaling skin	OMIM:609180
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Epidermal acanthosis, Erythematous papule, Hypopigmented skin patches	ORPHA:330064
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Scarring alopecia of scalp...	OMIM:602540
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granules, Hepatos...	OMIM:608233
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Reduced natural killer cell count, Cutaneous abscess, Decreased proportion o...	OMIM:243700
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ...	OMIM:620282
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent pneumonia, Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, T lymphocytope...	ORPHA:35078
Pgm3-Cdg	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal CD4:CD8 ratio, Reduced natural killer ...	ORPHA:443811
Lamellar Ichthyosis	Dry skin, Hyperkeratosis, Dehydration, Lack of skin elasticity	ORPHA:313
Reticular Dysgenesis	Skin ulcer, Dehydration	ORPHA:33355
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Conjugated hyperbiliru...	OMIM:269920
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Chromomycosis	Hyperkeratotic papule, Atypical scarring of skin, Hypopigmented skin patches, Hyperparakeratosis,...	ORPHA:182
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Keratoderma Hereditarium Mutilans	Papule, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo, Nevus	OMIM:193200
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency, Common Variable, 1	Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent bronchitis, Recurrent sinusitis,...	OMIM:607594
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Palmoplantar scaling skin, Palmoplantar erythema, Palmoplantar hyperker...	OMIM:605676
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Idiopathic Achalasia	Weight loss, Decreased circulating prealbumin concentration	ORPHA:930
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Ep...	OMIM:242300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Aplasia/Hypoplasia of the skin, Abnormality of skin pigmentation, Purpura, Thin skin	ORPHA:743
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Lymphopenia...	OMIM:600802
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Purpura, Abnormality of skin pigmentation, Thin skin	ORPHA:745
Leopard Syndrome 3	Multiple lentigines, Dry skin, Few cafe-au-lait spots, Hyperkeratosis, Numerous nevi, Epidermal h...	OMIM:613707
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Chilblain Lupus	Hyperkeratosis, Skin ulcer, Erythematous papule	ORPHA:90280
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Epide...	OMIM:242100
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Hyperkeratosis	OMIM:615821
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Dyskeratosis Congenita	Palmoplantar keratoderma, Hypopigmented skin patches, White hair, Premature graying of hair, Skin...	ORPHA:1775
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Splenomegaly, Aplasia/Hypoplasia of the lungs, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Pallor	ORPHA:2786
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Dry skin, Dermal atrophy, Freckles in sun-exposed areas, Hyperpigme...	ORPHA:90342
Immunodeficiency 19	Abnormal B cell morphology, Recurrent respiratory infections, T lymphocytopenia, Abnormal natural...	OMIM:615617
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Erythematous plaque	OMIM:618531
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Freckling, ...	ORPHA:79431
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Skin vesicle, Papule, Skin ulcer	ORPHA:2314
Familial Cold Urticaria	Erythema, Dehydration	ORPHA:47045
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Centrifugal Lipodystrophy	Erythema, Scaling skin	ORPHA:90156
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,...	OMIM:150550
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Abnormal hemoglobin, S...	ORPHA:848
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin system, Hypochloremi...	OMIM:214700
Congenital Disorder Of Glycosylation, Type Iq	Dry skin, Ichthyosis, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis	OMIM:612379
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Decreased serum testosterone concen...	ORPHA:465508
Mpdu1-Cdg	Erythematous plaque, Ichthyosis, Scaling skin	ORPHA:79323
Hidrotic Ectodermal Dysplasia	Thickened skin, Hyperkeratotic papule, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,...	ORPHA:189
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly, Recurrent respira...	OMIM:620210
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Hypotrichosis 6	Erythema, Follicular hyperkeratosis	OMIM:607903
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Recurrent respirat...	ORPHA:79124
Epidermodysplasia Verruciformis, Susceptibility To, 3	Palmar pits, Epidermal acanthosis	OMIM:618267
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Immunodeficiency, Common Variable, 2	Recurrent pneumonia, Abnormal T cell count, Recurrent bronchitis, Recurrent sinusitis, Follicular...	OMIM:240500
Herpes Simplex Virus Stromal Keratitis	Corneal stromal edema, Herpetiform vesicles	ORPHA:137599
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:796
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Pulmonary Blastoma	Weight loss	ORPHA:64741
Vitamin B12-Responsive Methylmalonic Acidemia	Dehydration	ORPHA:28
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Bronchitis, H...	OMIM:619381
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Chronic bronchitis, Cirrhosi...	OMIM:613490
Flynn-Aird Syndrome	Dermal atrophy, Hyperkeratosis	OMIM:136300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Anoperineal fistula, P...	OMIM:301074
Peeling Skin Syndrome 1	Scaling skin	OMIM:270300
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphocytic interstitial pneu...	OMIM:618495
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Bronchiolitis obliterans, Decreased proportion of C...	OMIM:617241
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD...	ORPHA:331206
Caspase 8 Deficiency	Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary infections, Lymphadenop...	OMIM:607271
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Dyskeratosis Congenita, Autosomal Recessive 8	Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia	OMIM:620133
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Intestinal lymphangiectasia, Elevated haptoglobin level, Abnormal circulating cr...	OMIM:620632
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg...	OMIM:620010
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Lymphop...	OMIM:618986
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hyperkeratosis	OMIM:618527
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thro...	OMIM:209950
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Neuraminidase Deficiency	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-m...	OMIM:256550
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Abnormal natural kille...	OMIM:620430
Sweet Syndrome	Erythematous papule, Erythematous plaque, Skin vesicle, Pyoderma gangrenosum, Skin nodule	ORPHA:3243
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega...	ORPHA:417
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m...	ORPHA:2585
Schopf-Schulz-Passarge Syndrome	Dry skin, Palmoplantar keratoderma, Hyperkeratosis	OMIM:224750
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Edema, Abnormal circulating protein concentration, Weight loss, Ab...	ORPHA:103910
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Transient Neonatal Diabetes Mellitus	Dehydration	ORPHA:99886
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:616029
Ectodermal Dysplasia-Syndactyly Syndrome 2	Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Combined Malonic And Methylmalonic Acidemia	Dehydration	ORPHA:289504
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Dry skin, Facial erythema, Skin fissure, Scaling skin, Sclerodactyly	ORPHA:1010
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia...	OMIM:242700
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells	OMIM:608957
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperald...	OMIM:601678
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, M...	OMIM:226990
Galactosemia Iii	Hepatomegaly, Jaundice, Hypergalactosemia, Splenomegaly	OMIM:230350
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Gastrointestinal hemorrhage, Weight loss, Palmoplantar keratoderma	ORPHA:2198
Variegate Porphyria, Childhood-Onset	Milia, Skin erosion, Epidermal hyperkeratosis	OMIM:620483
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Abnormal circulating interleukin concentration, Increased circulating interferon-gam...	ORPHA:542323
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Recurr...	OMIM:619846
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia	ORPHA:721
Combined Oxidative Phosphorylation Deficiency 47	Dehydration	OMIM:618958
Harlequin Ichthyosis	Hyperkeratosis, Dehydration	ORPHA:457
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma	ORPHA:2698
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly,...	ORPHA:397596
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Decreased proportion of CD8-positive T cells, Lymph...	ORPHA:169154
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphopenia, Decreased CD4:CD8...	OMIM:615518
Immunodeficiency 36 With Lymphoproliferation	Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem...	OMIM:616005
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, White forelock, Abnormality of retinal ...	ORPHA:742
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Nevus, White hair, Ocular al...	ORPHA:79435
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th...	OMIM:620603
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Wolman Disease	Hepatomegaly, Adrenal calcification, Splenomegaly	OMIM:620151
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H...	ORPHA:79501
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Palmoplantar keratoderma, Dry skin, Scarring alopecia of scalp, Follicular hyperkeratosis, Facial...	OMIM:308800
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Erythematous plaque, Ichthyosis, Scaling skin	ORPHA:35173
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg...	OMIM:616828
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat...	ORPHA:99931
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis, Aplasia cutis congenita, Skin erosion	OMIM:609638
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Primary amenorrhea, Hyperchole...	OMIM:612526
Agammaglobulinemia 8B, Autosomal Recessive	Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased propor...	OMIM:619824
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Central Diabetes Insipidus	Dehydration	ORPHA:178029
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Familial Melanoma	Dry skin, Nevus, Freckling	ORPHA:618
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Laryngeal Neuroendocrine Tumor	Weight loss, Elevated circulating carcinoembryonic antigen concentration	ORPHA:100083
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri...	OMIM:252920
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Abnormal circulating interleukin concentration, Abnormality of tumor nec...	ORPHA:70578
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit...	OMIM:618886
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno...	OMIM:603554
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphop...	OMIM:618935
Familial Cutaneous Collagenoma	Skin nodule, Papule, Abnormality of skin pigmentation	ORPHA:53296
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Follicular hyperkeratosis	ORPHA:300179
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Pemphigus Vulgaris	Acantholysis, Atypical scarring of skin, Urticarial plaque	ORPHA:704
Intestinal Dysmotility Syndrome	Polyhydramnios, Weight loss, Failure to thrive	OMIM:620045
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Follicular Lymphoma	Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymp...	ORPHA:545
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutr...	ORPHA:79312
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Epistaxis, Increased circulating interleuk...	OMIM:620514
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Weight los...	ORPHA:2070
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Abnormal lung lobation...	ORPHA:3097
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Death in childhood, Increased circulating interleukin 10 concentration	OMIM:613759
Gaucher Disease Type 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:77260
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Dehydration	OMIM:602722
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Vasculitis, Psoriasiform dermatitis, Skin rash, Palmoplantar pustulosis, Weight loss, Elevated ci...	ORPHA:324964
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Bone Marrow Failure Syndrome 5	Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia, Pulmonary ...	OMIM:618165
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration	OMIM:620126
Kid Syndrome	Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Scarring alopecia of scalp, Foll...	ORPHA:477
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Hypercalcemia, Infantile, 1	Dehydration	OMIM:143880
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration	OMIM:620125
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepatomegaly, Jaundice, Hemoly...	ORPHA:108
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Immunodeficiency 9	Hypoplasia of the thymus, Lymphopenia, Abnormal natural killer cell count	OMIM:612782
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Abnormal pleura morphology, Splenomegaly, Hy...	ORPHA:549
Ramon Syndrome	Hyperkeratosis, Abnormality of retinal pigmentation	ORPHA:3019
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Fixed Drug Eruption	Erythema, Skin erosion, Erythematous plaque, Hyperpigmentation of the skin, Skin detachment	ORPHA:293812
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Recurre...	OMIM:619170
Mogs-Cdg	External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Pulmonary edema, Left ventricular ...	ORPHA:79330
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer, Abnormality of skin pigmentation	ORPHA:1806
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Splenomegaly, H...	ORPHA:47612
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator...	OMIM:612541
Insulin Autoimmune Syndrome	Weight loss, Increased circulating antibody level	ORPHA:411593
Limited Cutaneous Systemic Sclerosis	Skin ulcer, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt...	OMIM:618042
Porphyria Cutanea Tarda	Scaling skin, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:101330
Chronic Graft Versus Host Disease	Erythema, Thickened skin, Skin ulcer, Morphea, Skin vesicle, Intermittent generalized erythematou...	ORPHA:99921
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Chikungunya	Erythema, Petechiae, Skin vesicle, Macule, Depigmentation/hyperpigmentation of skin	ORPHA:324625
Kennedy Disease	Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu...	ORPHA:481
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Proteus-Like Syndrome	Thymus hyperplasia, Bronchogenic cyst, Abnormality of the parathyroid gland, Splenomegaly, Polycy...	ORPHA:2969
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Abnormality of the pulmonary artery, Ventricular septal d...	ORPHA:290
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis, Multiple cafe-au-lait spots	ORPHA:1809
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocyt...	OMIM:620365
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Palmoplantar keratoderma, Premature graying of hair, Lack of skin elasticity, Apl...	ORPHA:1979
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Pancytopenia, Hepatosplenomegaly...	OMIM:615122
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Leishmaniasis	Hypoalbuminemia, Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatome...	ORPHA:507
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, B lymphocytopenia, Micropenis, Recurrent lower respirato...	OMIM:615966
Immunodeficiency 58	Atrophic scars, Psoriasiform lesion, Ichthyosis, Scaling skin	OMIM:618131
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Generalized edema, Decreased circulating IgG level, Hypomagnesemia, Ascites, Lym...	ORPHA:90362
Isovaleric Acidemia	Dehydration	OMIM:243500
Recon Progeroid Syndrome	Dry skin, Scaling skin, Thin skin	OMIM:620370
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Cerebrooculofacioskeletal Syndrome 1	Dehydration	OMIM:214150
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia	ORPHA:88643
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis	OMIM:181600
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Hepatomegal...	OMIM:612387
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Pachyonychia Congenita	Cutaneous cyst, Palmoplantar keratoderma, Epidermoid cyst, Linear arrays of macular hyperkeratose...	ORPHA:2309
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly, Pulmonary hypoplasia	OMIM:614096
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Bartter Syndrome Type 4	Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin syst...	ORPHA:89938
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent forame...	OMIM:620642
Lipoid Proteinosis	Thickened skin, Subcutaneous nodule, Papule, Hyperkeratosis	ORPHA:530
Congenital Pulmonary Lymphangiectasia	Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Atopic dermatitis, Failure to thrive in infancy, Pustule, Hyponatremia, Arrhyt...	ORPHA:171876
Cholesteryl Ester Storage Disease	Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat...	ORPHA:75234
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Dry skin, Milia, Generalized reticulate b...	ORPHA:69087
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation	ORPHA:2222
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:241200
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin, Hyperkeratosis	ORPHA:1028
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:603909
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Increased LD...	OMIM:278000
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T ...	ORPHA:911
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Recurrent sinopulmonary infec...	OMIM:618394
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis	ORPHA:42642
Wolfram Syndrome 1	Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Tes...	OMIM:222300
Large Congenital Melanocytic Nevus	Nevus, Hypopigmented skin patches, Congenital giant melanocytic nevus, Abnormality of skin pigmen...	ORPHA:626
Graft Versus Host Disease	Skin erosion, Lichenoid skin lesion, Scaling skin, Cutaneous sclerotic plaque	ORPHA:39812
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Melanocytic nevus, Abnormali...	ORPHA:79434
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly...	ORPHA:79083
Noonan Syndrome 8	Palmoplantar cutis laxa, Hyperpigmentation of the skin, Hyperkeratosis	OMIM:615355
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidi...	ORPHA:1655
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ...	OMIM:618838
Corticosterone Methyloxidase Type Ii Deficiency	Dehydration	OMIM:610600
Vitamin B12-Unresponsive Methylmalonic Acidemia	Dehydration	ORPHA:27
Tafro Syndrome	Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Hepatomegaly, Lymphade...	ORPHA:457077
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Acantholysis	OMIM:615508
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Intrahepatic Cholestasis Of Pregnancy	Pruritus on foot, Abnormal circulating interleukin concentration, Ascites, Hyperbilirubinemia, In...	ORPHA:69665
Congenital Short Bowel Syndrome	Dehydration	OMIM:615237
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Netherton Syndrome	Dry skin, Dehydration	ORPHA:634
Corticosterone Methyloxidase Type I Deficiency	Dehydration	OMIM:203400
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiom...	OMIM:620376
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Familial Mediterranean Fever	Pleural effusion, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Elevated circulating C-react...	OMIM:249100
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Recurrent upper respiratory tract infections, Lymphopenia, Autoimmune hemolytic anemia, Splenomeg...	OMIM:616100
Roifman Syndrome	Recurrent pneumonia, Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosin...	OMIM:616651
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru...	OMIM:619046
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Dehydration	OMIM:264350
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Carnitine Deficiency, Systemic Primary	Dehydration	OMIM:212140
Gaucher Disease Type 1	Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Increased circulating ferri...	ORPHA:77259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, ...	OMIM:618278
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia...	ORPHA:39041
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Increased circulating interleukin 6 concentration, Acne inversa, Elevated...	OMIM:608068
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Nevus	ORPHA:398189
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Psoriasis 14, Pustular	Parakeratosis, Epidermal acanthosis, Erythema	OMIM:614204
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Cachexia, Death in infancy, Congestive heart failure	ORPHA:157973
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	ORPHA:85414
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Hyperammonemia, Cardiomegaly, Hyperalanin...	OMIM:614702
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Hepato...	ORPHA:3162
Acute Lung Injury	Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnormality of tu...	ORPHA:178320
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly	OMIM:614699
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, Ventricular septal defect, Th...	OMIM:235255
Leukocyte Adhesion Deficiency Type Ii	Palpebral edema, Skin vesicle	ORPHA:99843
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis	ORPHA:3318
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy...	ORPHA:398063
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Follicular hyperkeratosis	ORPHA:486815
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Timothy Syndrome	Pneumonia, Bronchitis, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septa...	OMIM:601005
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Dysmenorrhea, P...	ORPHA:2348
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Costello Syndrome	Generalized hyperpigmentation, Redundant skin, Lack of skin elasticity, Acanthosis nigricans, Hyp...	ORPHA:3071
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration	OMIM:177735
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Hypergranulosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperker...	OMIM:257980
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614495
Autosomal Agammaglobulinemia	Dehydration	ORPHA:33110
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly...	OMIM:201100
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Verrucous papule	ORPHA:2611
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Rhabdoid Tumor	Hypertension, Weight loss, Internal hemorrhage, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Dry skin, Hyperkeratosis, Thin...	ORPHA:238468
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Pancytopenia, Portal hyper...	ORPHA:98850
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi...	OMIM:600649
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Mitral valve prolapse, Splenomegaly, Hypogonadotropic ...	ORPHA:251066
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Dehydration	OMIM:560000
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral val...	OMIM:231005
Propionic Acidemia	Dehydration	OMIM:606054
Pleural Mesothelioma	Abnormal cardiovascular system physiology, Pleural effusion, Weight loss	ORPHA:50251
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism	OMIM:614496
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure...	ORPHA:75566
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Pleural effusion, Leukocyt...	ORPHA:2902
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Epiderma...	OMIM:601214
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Palmoplantar hyperkeratosis, Epidermal acanthosis, Follicular hyperkeratosis	OMIM:617388
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Hypouricemia, Recurrent upper respiratory tract infections, Pure red cell aplasia, Lym...	OMIM:613179
Von Hippel-Lindau Syndrome	Polycythemia, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Pulmonary capillary hemangiomato...	OMIM:193300
Juvenile Huntington Disease	Cerebellar vermis atrophy, Weight loss, Cerebellar atrophy	ORPHA:248111
Focal Myositis	Weight loss, Elevated circulating creatine kinase concentration	ORPHA:48918
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Hyperalaninemia, Hyperprolinemia	OMIM:619064
Tangier Disease	Decreased HDL cholesterol concentration, Splenomegaly, Elevated circulating apolipoprotein A-II c...	OMIM:205400
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Cerebral ischemia, Pulmonary arteri...	ORPHA:3287
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Mulibrey Nanism	Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Recurrent lower respiratory tract ...	OMIM:253250
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ...	OMIM:616897
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creati...	OMIM:300280
Polyarteritis Nodosa	Cardiomyopathy, Weight loss, Raynaud phenomenon, Elevated circulating C-reactive protein concentr...	ORPHA:767
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Early-Onset Familial Hypoaldosteronism	Dehydration	ORPHA:556030
Wolman Disease	Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m...	ORPHA:75233
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Thyroiditis, Recurrent pneumonia, Type I diabetes mellitus, Pancytopenia, Autoimmune h...	OMIM:614700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Beta-Ketothiolase Deficiency	Pallor, Dehydration, Edema	ORPHA:134
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy...	ORPHA:464329
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin	OMIM:606367
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis, Epidermal acanthosis	OMIM:607626
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Follicular hyperkeratosis, Scaling skin	ORPHA:158668
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Peripheral edema, Weight loss, Hypochromic microcyt...	ORPHA:2494
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Skin ulcer, Dry skin, Abnormality of retinal pigmentation, Scaling skin, Subcutan...	ORPHA:2526
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Joint swelling	OMIM:180300
Oculoskeletodental Syndrome	Splenomegaly, Cryptorchidism, Hypocalcemia, Hypothyroidism, Hepatomegaly, Hypercalcemia	OMIM:618440
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Meige Disease	Atypical scarring of skin, Skin erosion, Skin ulcer, Cobblestone-like hyperkeratosis, Skin dimple	ORPHA:90186
Bacterial Toxic-Shock Syndrome	Localized skin lesion, Scaling skin, Ecchymosis	ORPHA:36234
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Splenomeg...	ORPHA:264580
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Elevated circulating C-reactive protein concentration, Abnormal circulating interleukin concentra...	ORPHA:85435
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopath...	ORPHA:32960
Poikiloderma With Neutropenia	Palmoplantar keratoderma, Dermal atrophy, Reticular hyperpigmentation, Plantar hyperkeratosis, Hy...	OMIM:604173
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
X-Linked Agammaglobulinemia	Failure to thrive, Skin rash, Hypocalcemia, Agammaglobulinemia, Weight loss, Thrombocytopenia, Ne...	ORPHA:47
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Pneumonia, Recurrent upper respiratory tract infections, Type I diabetes mellitus, Pure red cell ...	ORPHA:436159
Chronic Mucocutaneous Candidiasis	Erythema, Papule, Hyperkeratosis, Skin ulcer	ORPHA:1334
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Pulmonary hy...	OMIM:617022
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Leukocytosis, Splenomegaly, Pustule, Cac...	ORPHA:77297
Cirrhotic Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial...	ORPHA:57777
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona...	ORPHA:71493
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Common Variable Immunodeficiency	Pneumonia, Emphysema, Lymphopenia, Abnormality of the liver, Recurrent bronchitis, Splenomegaly, ...	ORPHA:1572
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly	ORPHA:664
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Glycogen Storage Disease Ii	Pleural effusion, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly,...	OMIM:232300
Congenital Disorder Of Glycosylation, Type Im	Dry skin, Hyperkeratosis, Ichthyosis	OMIM:610768
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Thin skin	ORPHA:1810
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan...	OMIM:620306
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Lymphadenopathy	ORPHA:79292
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Systemic Capillary Leak Syndrome	Hypotension, Pleural effusion, Leukocytosis, Pulmonary edema, Arrhythmia, Weight loss, Myocarditi...	ORPHA:188
Immunodeficiency 10	Recurrent pneumonia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lympha...	OMIM:612783
Syndromic Diarrhea	Hepatic fibrosis, Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of F...	ORPHA:84064
Cystinosis	Dehydration	ORPHA:213
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Generalized reticulate brown pigmentation, Hyperkeratosis, Reticular hyperpigmentation	OMIM:301220
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Oligohydramnios, Dehydration	OMIM:208085
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho...	OMIM:208540
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Xeroderma Pigmentosum	Thickened skin, Erythema, Hypopigmented skin patches, Dry skin, Melanocytic nevus, Dermal atrophy...	ORPHA:910
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Abnormal heart morphology, Tetralogy of Fall...	ORPHA:3384
Isaacs Syndrome	Weight loss	ORPHA:84142
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary arte...	ORPHA:3427
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Brucellosis	Hypersplenism, Hepatomegaly, Elevated circulating C-reactive protein concentration, Epididymitis,...	ORPHA:1304
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c...	ORPHA:540
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul...	OMIM:620367
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated...	ORPHA:93672
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia	OMIM:619051
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotensi...	ORPHA:85443
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:613027
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Au...	OMIM:615607
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protei...	ORPHA:1451
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Christianson Syndrome	Cachexia, Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy, Death in early adulthood	ORPHA:85278
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Lymphopenia, Autoimmune hemolytic ane...	OMIM:102700
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Hemolytic anemia, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadeno...	ORPHA:809
Inflammatory Pseudotumor Of The Liver	Weight loss, Increased hepatitis B virus antibody level	ORPHA:90003
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Recurrent pneumonia, Hypertrophic cardiomyopathy, L...	OMIM:617303
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Increa...	OMIM:614034
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Oligohydramnios, Dehydration, Neonatal death	OMIM:263200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Dehydration	OMIM:251000
Donohue Syndrome	Acanthosis nigricans, Hypermelanotic macule, Hyperkeratosis	OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Muscular edema, Eosinophilia, Weight loss, Edema	ORPHA:3165
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Dehydration	OMIM:246450
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Dehydration	OMIM:615453
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Alexander Disease Type I	Cachexia, Cerebellar atrophy, Failure to thrive	ORPHA:363717
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations, Weight loss	OMIM:188580
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Hypertrophic cardiomyopathy, Weight loss, Anemia, Patent ductus arteriosus	ORPHA:1842
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites...	OMIM:115197
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Hyperammonemia, Weight loss, Thrombocytopenia	ORPHA:79242
Parkes Weber Syndrome	Capillary malformation, Erythematous plaque, Skin ulcer, Scaling skin	ORPHA:90307
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Emphysema, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly...	ORPHA:36412
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Freckling, Epidermal hyperkeratosis	OMIM:137940
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Adrenal Hypoplasia, Congenital	Dehydration	OMIM:300200
Secondary Short Bowel Syndrome	Dehydration	ORPHA:95427
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia, ...	OMIM:608013
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hyperammonemia, Hepatic steatosis, Elevated circulating creatine kinase concentration, Cardiomega...	ORPHA:42
Werner Syndrome	Skin ulcer, Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Lack ...	ORPHA:902
Classic Hodgkin Lymphoma	Splenomegaly, Pruritus, Weight loss, Skin rash	ORPHA:391
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Partial alb...	ORPHA:79430
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss	ORPHA:1164
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Glucose-Galactose Malabsorption	Dehydration	ORPHA:35710
Trichothiodystrophy 1, Photosensitive	Dry skin, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Freckling	OMIM:601675
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptoglobin level, ...	OMIM:300842
3-Hydroxy-3-Methylglutaric Aciduria	Pallor, Dehydration, Edema	ORPHA:20
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Intraalveolar phospholipid accumulation, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Sp...	OMIM:620565
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Asymmetric septal hypertrophy, Recurrent upper respiratory tract infections, Spleno...	OMIM:252900
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Dehydration	OMIM:616271
Spinocerebellar Ataxia 48	Cachexia, Cerebellar atrophy	OMIM:618093
Q Fever	Pneumonia, Granuloma, Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality...	ORPHA:781
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hype...	OMIM:201475
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Leukocytosi...	OMIM:615895
Free Sialic Acid Storage Disease	Iris hypopigmentation, Skin ulcer, Abnormality of skin pigmentation	ORPHA:834
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Splenomegal...	OMIM:230500
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Angioedema	OMIM:256500
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia, Abnormal blood ion concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic ...	ORPHA:37042
Restrictive Dermopathy	Skin erosion, Generalized hyperkeratosis, Dermal atrophy, Scaling skin, Dermal translucency, Epid...	ORPHA:1662
Lymphatic Malformation 6	Chylothorax, Intestinal lymphangiectasia, Ascites, Pleural effusion, Splenomegaly, Hypothyroidism...	OMIM:616843
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Atopic dermatitis, Cerebellar atrophy, Increased circulating ferritin c...	OMIM:615846
Wolcott-Rallison Syndrome	Ascites, Dehydration	ORPHA:1667
Von Hippel-Lindau Disease	Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Pancreatic cysts, Pancrea...	ORPHA:892
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru...	ORPHA:294
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Impotence	OMIM:268800
Mulibrey Nanism	Cachexia	ORPHA:2576
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia	ORPHA:3137
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Multiple lentigines, Dry skin, Generalized hyperpigmentation, Redundant...	ORPHA:1340
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Congestive heart failure, Pleural effusion, Leukocytosis, Constrictive pericardi...	ORPHA:67
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Failure to thrive, Ascites, Hepatosplenomegaly, Hemolytic anemia, Portal hyperte...	OMIM:619487
Castleman Disease	Restrictive cardiomyopathy, Increased circulating interleukin 6 concentration, Anasarca, Weight l...	ORPHA:160
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atypical scarring of skin, Atrophic scars, Cutis laxa, Abnormality of skin pigmentation, Thin skin	ORPHA:75496
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Splenomegaly, Polycystic ovaries, Elevated circulating ...	ORPHA:79240
Bullous Pemphigoid	Pruritus, Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Congenital Tufting Enteropathy	Dehydration	ORPHA:92050
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Dend Syndrome	Dehydration	ORPHA:79134
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hepatome...	ORPHA:77261
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Myoectodermal Gonadal Dysgenesis Syndrome	Dry skin, Scaling skin	OMIM:618419
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Cerebellar atrophy, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyp...	OMIM:301310
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Scarring alopecia of scalp, Orthokeratosis	OMIM:617337
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,...	OMIM:613812
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Hypereosinophilia, Increased c...	ORPHA:449400
Peripheral Primitive Neuroectodermal Tumor	Ascites, Elevated carcinoma antigen 125 level, Abnormal superior cerebellar peduncle morphology, ...	ORPHA:370348
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:235555
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Nevus, Parakeratosis, Epidermal ...	OMIM:308050
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach...	OMIM:607765
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Wilson Disease	Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Hepatic steatosis, Splenomegaly, ...	ORPHA:905
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Whipple Disease	Pleuritis, Splenomegaly, Hyponatremia, Hepatomegaly, Anemia, Hypothyroidism, Erectile dysfunction...	ORPHA:3452
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Chylothorax	OMIM:619036
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia,...	OMIM:617591
Neuropathy, Congenital Hypomyelinating, 3	Polyhydramnios, Cachexia, Cerebellar atrophy, Neonatal death	OMIM:618186
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Hepatomegaly, Lymphadenopathy, Myocarditis	ORPHA:3386
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Cerebellar edema	ORPHA:363558
Riddle Syndrome	Erythema, Scaling skin	ORPHA:420741
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Scaling skin	ORPHA:294023
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Hepat...	OMIM:612852
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Elevated circulating parathyroid hormone level, Cardiomyopathy, Leukocytosis,...	ORPHA:289157
Congenital Disorder Of Glycosylation, Type Iil	Dry skin, Hyperkeratosis	OMIM:614576
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced hapto...	OMIM:611881
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Weigh...	ORPHA:90060
Pseudomyxoma Peritonei	Ascites, Weight loss	ORPHA:26790
Chops Syndrome	Aspiration pneumonia, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Splenomega...	OMIM:616368
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Lymphopenia, Hepat...	OMIM:615688
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Vasculitis in the skin	ORPHA:319552
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hypermethioninemia, Increased circulating iron concentration, ...	OMIM:222470
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, ...	ORPHA:3208
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Failure to thrive, Increased circulating interfer...	ORPHA:85410
Cholera	Palmoplantar cutis laxa, Dehydration	ORPHA:173
Kaposi Sarcoma	Abnormality of the spleen, Weight loss, Skin rash, Lymphedema	ORPHA:33276
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Delayed puberty, Lymphade...	OMIM:614162
Pneumocystosis	Pleural effusion, Increased circulating antibody level, Weight loss, Abnormal neutrophil count, C...	ORPHA:723
Fucosidosis	Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Recurrent respiratory infections	OMIM:230000
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Hyperammonemia, Ventricular septal defect,...	OMIM:620609
Yao Syndrome	Inflammatory abnormality of the skin, Xerostomia, Skin rash, Weight loss, Pericarditis	OMIM:617321
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent re...	OMIM:617050
Hereditary Mucoepithelial Dysplasia	Hyperkeratosis	ORPHA:1839
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Thymic Carcinoma	Palpebral edema, Weight loss, Edema	ORPHA:99868
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration...	ORPHA:77293
Pearson Marrow-Pancreas Syndrome	Erythema, Hydrops fetalis, Pallor, Dehydration	OMIM:557000
Restrictive Dermopathy 1	Skin erosion, Thin skin, Scaling skin, Epidermal hyperkeratosis	OMIM:275210
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Cachexia, Weight loss	ORPHA:83469
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Drug Reaction With Eosinophilia And Systemic Symptoms	Angioedema, Skin rash, Pustule, Eosinophilia, Lymphocytosis, Erythroderma, Weight loss, Myocardit...	ORPHA:139402
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Pleur...	ORPHA:167
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Splenomegaly, Hepatomegaly, Hypophosphatemia, Cal...	OMIM:239200
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Kindler Epidermolysis Bullosa	Erythema, Atypical scarring of skin, Palmoplantar keratoderma, Milia, Aplasia/Hypoplasia of the s...	ORPHA:2908
Mitochondrial Neurogastrointestinal Encephalomyopathy	Anemia, Cachexia, Weight loss, Hyperalaninemia	ORPHA:298
Malignant Peritoneal Mesothelioma	Ascites, Weight loss, Pedal edema	ORPHA:168811
Mycetoma	Cutaneous cyst, Cobblestone-like hyperkeratosis, Subcutaneous nodule	ORPHA:2583
Selective Igm Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Decreased propo...	ORPHA:331235
Congenital Syphilis	Palmoplantar scaling skin, Purpura, Petechiae	ORPHA:499009
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hypertrophic cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Decrease...	OMIM:269700
Noonan Syndrome 10	Palmoplantar cutis laxa, Hyperpigmentation of the skin, Cafe-au-lait spot, Hyperkeratosis	OMIM:616564
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Methylmalonic Aciduria, Cblb Type	Dehydration	OMIM:251110
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula...	OMIM:617713
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia...	OMIM:207750
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Chronic Granulomatous Disease	Abnormality of neutrophils, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Mediast...	ORPHA:379
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Congestive hear...	ORPHA:91139
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypertonic dehydration	OMIM:304800
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hyperammonemia, Hepatome...	OMIM:618641
Pachyonychia Congenita 3	Follicular hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis	OMIM:615726
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Lymphocytosis, Weight loss, P...	ORPHA:514
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Methylmalonic Aciduria, Cbla Type	Dehydration	OMIM:251100
Renal Hypoplasia	Dehydration	ORPHA:93101
Familial Mediterranean Fever	Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy, Pleuri...	ORPHA:342
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hyperkeratosis	OMIM:301108
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh...	OMIM:251880
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Dry skin, Follicular hyperkeratosis, Scaling s...	OMIM:308205
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Chylothorax, Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Cryptor...	OMIM:613563
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia	ORPHA:391428
Alternating Hemiplegia Of Childhood	Pallor, Dehydration	ORPHA:2131
Rat-Bite Fever	Scaling skin	ORPHA:31205
Carnitine Palmitoyltransferase I Deficiency	Hepatic steatosis, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardiomega...	OMIM:255120
Incontinentia Pigmenti	Erythema, Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Abnormality of ski...	ORPHA:464
Huntington Disease-Like 1	Weight loss, Cerebellar atrophy	ORPHA:157941
Osteootohepatoenteric Syndrome	Failure to thrive, Increased serum bile acid concentration, Hypokalemia, Weight loss, Anemia, Pru...	OMIM:619377
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Lymphadenitis, Granuloma, Atelectasis, Ascites, Impaired oxidative burst, Pl...	OMIM:306400
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Labial hypertrophy, Cryptorchid...	ORPHA:96191
Huntington Disease	Weight loss, Abnormal circulating cholesterol concentration, Decreased body mass index	ORPHA:399
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Decreased HDL cholesterol concentration, Hypertrophic cardiomyopathy...	ORPHA:280365
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Recurrent upper respiratory tract infections, Splenomegaly	ORPHA:583
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Anemia, Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia	ORPHA:54251
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Prolon...	OMIM:607625
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Atelectasis, Cryptorchidism, Patent foramen ovale, Splenic cyst, C...	OMIM:620371
Shigellosis	Purpura, Dehydration	ORPHA:810
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency, E...	OMIM:137920
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia, Hyperuricemia	OMIM:300322
Refsum Disease, Classic	Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy	OMIM:266500
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,...	ORPHA:699
Arthrogryposis And Ectodermal Dysplasia	Dry skin, Atypical scarring of skin, Hyperkeratosis	OMIM:601701
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, Splenomegaly, Hepatic...	OMIM:608594
Lysosomal Acid Lipase Deficiency	Hypotension, Hyperkalemia, Failure to thrive, Ascites, Hepatosplenomegaly, Hypersplenism, Bone-ma...	ORPHA:275761
Gray Platelet Syndrome	Menorrhagia, Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large ves...	ORPHA:49041
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia	OMIM:175500
Benign Recurrent Intrahepatic Cholestasis	Pruritus, Weight loss	ORPHA:65682
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Dehydration	ORPHA:90791
Autoimmune Hepatitis	Viral hepatitis, Increased total bilirubin, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrho...	ORPHA:2137
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Recurrent upper respiratory tract infections, Elevated circulating thyroi...	OMIM:256040
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Few cafe-au-lait spots, Dry skin, Ichthyosis, Cutis laxa, Facial erythema, Scaling skin...	OMIM:619503
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233710
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Transient ischemic attack, Ski...	ORPHA:183
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa...	OMIM:614921
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Increased total bilirubin, Elevated circulating creatinine concentration,...	OMIM:608836
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocortical cytomega...	OMIM:130650
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Mediastinal lymphadenopathy, Abnormal salivary gland morphology, Emphys...	OMIM:181000
Graves Disease	Weight loss, Congestive heart failure	OMIM:275000
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Hyperlipi...	ORPHA:567983
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Subcutaneous nodule, Papule, Hyperkeratosis	ORPHA:79280
Multiple Myeloma	Elevated circulating creatinine concentration, Pleural effusion, Splenomegaly, Increased circulat...	ORPHA:29073
Premature Aging Syndrome, Penttinen Type	Thickened skin, Keloids, Dermal atrophy, Palmoplantar hyperkeratosis, Skin nodule, Hyperkeratosis...	OMIM:601812
Dopamine Beta-Hydroxylase Deficiency	Dehydration	ORPHA:230
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating...	ORPHA:14
Sepsis In Premature Infants	Hypotension, Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Decre...	ORPHA:90051
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Neuroendocrine Tumor Of The Colon	Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Facial telangiecta...	ORPHA:100080
Aregenerative Anemia	Abnormal circulating interleukin concentration, Pancytopenia, Decreased proportion of CD4-positiv...	ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Gaucher Disease	Aortic valve calcification, Pancytopenia, Cirrhosis, Hepatomegaly, Elevated circulating C-reactiv...	ORPHA:355
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Osteosarcoma	Weight loss, Joint swelling	ORPHA:668
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Ogden Syndrome	Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Pulmonary edema, Bicuspid aortic v...	OMIM:300855
Glycogen Storage Disease Ib	Hyperlipidemia, Splenomegaly, Hyperuricemia, Pancreatitis, Delayed puberty, Neutropenia, Pancreat...	OMIM:232220
Toxic Epidermal Necrolysis	Erythema, Acantholysis, Skin ulcer, Macule	ORPHA:537
Incontinentia Pigmenti	Erythema, Pallor, Hyperkeratosis, Abnormality of skin pigmentation	OMIM:308300
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Weight loss, Pleural effusion	ORPHA:411703
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Nevus	OMIM:620189
Celiac Disease, Susceptibility To, 1	Eczematoid dermatitis, Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Macrocyt...	OMIM:212750
Riboflavin Transporter Deficiency	Cachexia, Hypertension	ORPHA:97229
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Elevated circulating creat...	OMIM:610717
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration	ORPHA:1933
Noonan Syndrome 2	Nevus, Melanocytic nevus, Redundant neck skin, Palmoplantar cutis laxa, Hyperpigmentation of the ...	OMIM:605275
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Right ventricular failure, Tricuspid regurgitation, Palpitations, Faci...	ORPHA:100082
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged n...	ORPHA:30391
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Aspiration pneumonia, Adenoiditis, Respiratory tract infection, Abnormal a...	ORPHA:581
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Elevated circulating creatinine concentrat...	ORPHA:85450
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Elevated circulating thyroid-stimulating horm...	OMIM:610199
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ...	ORPHA:116
Oligomeganephronia	Dehydration	ORPHA:2260
Idiopathic Bronchiectasis	Cachexia, Myocardial infarction	ORPHA:60033
Cardiofaciocutaneous Syndrome 1	Multiple lentigines, Ichthyosis, Hyperpigmentation of the skin, Hyperkeratosis, Numerous nevi	OMIM:115150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Decreased plasma free carnitine...	ORPHA:228308
Glossopharyngeal Neuralgia	Chiari type I malformation, Syncope, Weight loss, Bradycardia, Jaw claudication	ORPHA:221098
Severe Generalized Junctional Epidermolysis Bullosa	Skin erosion, Edema, Aplasia cutis congenita, Skin plaque, Dehydration	ORPHA:79404
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ab...	ORPHA:95430
Amyloidosis, Hereditary Systemic 1	Cardiomegaly, Pulmonary edema, Impotence, Cardiomyopathy	OMIM:105210
Cronkhite-Canada Syndrome	Anemia, Cachexia, Splenomegaly, Lymphedema	ORPHA:2930
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Ascites, Death in adolescence, Cachexia, Hypertension	OMIM:610965
Bartter Syndrome, Type 3	Dehydration	OMIM:607364
Hennekam Syndrome	Chylothorax, Ascites, Lymphopenia, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary lymphan...	ORPHA:2136
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Atelectasis, Ascites, Splenomegaly, Patent foramen ovale, Ventricular septal...	OMIM:269860
Gm1 Gangliosidosis	Failure to thrive, Cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Splenomegaly, We...	ORPHA:354
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Respiratory tract infection, Elevated circulating creatine kinase co...	ORPHA:308552
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Mcdonough Syndrome	Cachexia	ORPHA:2471
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Colchicine Poisoning	Dehydration	ORPHA:31824
Bethlem Muscular Dystrophy	Cigarette-paper scars, Hyperkeratosis	ORPHA:610
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neut...	ORPHA:520
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Multiple lentigines, Ichthyosis, Hyperpigmentation of the skin, Hyperkeratosis, Cafe-au-lait spot	OMIM:607721
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Bronchial Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,...	ORPHA:97287
Vipoma	Ascites, Erythema, Dehydration	ORPHA:97282
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocyt...	ORPHA:3260
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypotension, Failure to thrive, Macrocytic anemia, Hyperuricemia, Hyponatremia...	ORPHA:199299
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Hepatomegaly, Jaundice, Epididymitis, Diffuse alveolar hemorrhage, As...	ORPHA:99827
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepato...	OMIM:613471
Neuroendocrine Tumor Of Stomach	Hypotension, Cardiogenic shock, Right ventricular failure, Tricuspid regurgitation, Palpitations,...	ORPHA:100075
Milroy Disease	Hyperkeratosis	ORPHA:79452
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Dehydration	ORPHA:79282
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Abnormality of skin pigmentation	OMIM:225050
Fucosidosis	Cardiomegaly, Hepatomegaly, Abnormality of the gallbladder, Hypothyroidism	ORPHA:349
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Edema, Palpitation...	ORPHA:100078
Lethal Acantholytic Erosive Disorder	Acantholysis	ORPHA:158687
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Stevens-Johnson Syndrome	Erythema, Acantholysis, Macule	ORPHA:36426
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increased mean pla...	OMIM:153670
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
Eec Syndrome	Nevus, Dry skin, Aplasia/Hypoplasia of the skin, Generalized hypopigmentation, Hyperkeratosis	ORPHA:1896
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega...	ORPHA:51
Acute Adrenal Insufficiency	Normocytic anemia, Hypotension, Failure to thrive, Increased circulating renin level, Hyperuricem...	ORPHA:95409
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating lipid concentration, Abnormality of bo...	ORPHA:2298
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia...	OMIM:608885
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ...	ORPHA:363705
Alveolar Echinococcosis	Cutaneous abscess, Budd-Chiari syndrome, Portal hypertension, Increased circulating antibody leve...	ORPHA:284
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly	ORPHA:30
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Chronic Beryllium Disease	Weight loss, Abnormal proportion of CD4-positive T cells	ORPHA:133
Oculocerebrorenal Syndrome Of Lowe	Atypical scarring of skin, Skin ulcer, Joint swelling, Dehydration	ORPHA:534
Leprosy	Penetrating foot ulcers, Hypopigmented macule, Urticarial plaque, Acral ulceration, Verrucous pap...	ORPHA:548
Kanzaki Disease	Dry skin, Hyperkeratosis, Petechiae	OMIM:609242
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Recurrent pneumonia, Abnormal...	ORPHA:1329
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia	ORPHA:1438
Digeorge Syndrome	Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Atelectasis, Tetralogy of Fallot, Sp...	OMIM:188400
Pyruvate Carboxylase Deficiency	Dehydration	ORPHA:3008
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Hypophosphatemic rickets	OMIM:614473
Neuroleptic Malignant Syndrome	Dehydration	ORPHA:94093
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Hypertension, Failure to thrive	OMIM:256700
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Recurrent pneumonia, Hypertrophic cardiomyopathy, Splenomega...	OMIM:252500
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Lymphoid Interstitial Pneumonia	Eczematoid dermatitis, Failure to thrive, Skin rash, Pulmonary venous hypertension, Weight loss, ...	ORPHA:79128
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Ischemic stroke, Pleural effusion, Telangiectasia of the ...	ORPHA:679
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia	OMIM:230900
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Cardiomyopathy, Cerebral vasculitis, Elevated haptoglobin l...	ORPHA:48435
Neuroblastoma	Increased circulating ferritin concentration, Weight loss, Thrombocytopenia, Anemia, Hypertension	ORPHA:635
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Second degree atrioventricular block, Hypomagnesemia, Obesity, Palpitations...	ORPHA:79102
Microsporidiosis	Skin nodule, Dehydration	ORPHA:2552
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Hypomelanotic macule	OMIM:617052
Danon Disease	Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr...	OMIM:300257
Proteus Syndrome	Pulmonary cyst, Long penis, Bronchogenic cyst, Thymus hyperplasia, Diabetes insipidus, Abnormal l...	ORPHA:744
Erdheim-Chester Disease	Congestive heart failure, Abnormal cerebellum morphology, Pleural effusion, Joint swelling, Skin ...	ORPHA:35687
Primary Hepatic Neuroendocrine Carcinoma	Right ventricular failure, Ascites, Palpitations, Facial telangiectasia, Weight loss, Heart murmur	ORPHA:100085
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia, Pure red cell aplasia, D...	ORPHA:99867
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno...	ORPHA:3440
Cowden Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Generalized hyperkeratosis, Melanocytic nev...	ORPHA:201
Nodular Non-Suppurative Panniculitis	Weight loss, Splenomegaly, Edema	ORPHA:33577
Nephroblastoma	Weight loss, Hypertension	ORPHA:654
Dermatomyositis	Vasculitis, Periorbital edema, Abnormal eosinophil morphology, Sinus tachycardia, Heliotrope rash...	ORPHA:221
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hypertrophic cardiomyop...	OMIM:276700
Infantile Nephropathic Cystinosis	Dehydration	ORPHA:411629
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Polyhydramnios, Cachexia	ORPHA:2774
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Renpenning Syndrome	Cachexia	ORPHA:3242
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Pleural effusion...	OMIM:261740
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Decreased body weight, Pulmonary edema, Tachycardia, Hyperkalemia, Shock, Elev...	ORPHA:340
Absence Of The Pulmonary Artery	Recurrent pneumonia, Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncu...	ORPHA:980
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Elevated amniotic fluid alpha-fetopro...	OMIM:249000
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
De Sanctis-Cacchione Syndrome	Parakeratosis, Dermal atrophy, Hypermelanotic macule	OMIM:278800
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios	ORPHA:223
Familial Glucocorticoid Deficiency	Hypotension, Failure to thrive, Hypertrophic cardiomyopathy, Hyponatremia, Weight loss, Hyperkalemia	ORPHA:361
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Skin rash, Hypertension, A...	ORPHA:900
Histiocytoid Cardiomyopathy	Polycystic ovaries, Cardiomegaly, Pulmonary edema, Ventricular septal defect, Hepatomegaly	ORPHA:137675
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Cholelithiasis, Type I diabetes mellitus, Hepatitis, Cholestas...	ORPHA:171
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Ichthyosis	OMIM:148210
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Dehydration	ORPHA:90038
Hyperoxaluria, Primary, Type I	Dehydration	OMIM:259900
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Dehydration	ORPHA:168558
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Woodhouse-Sakati Syndrome	Scaling skin	ORPHA:3464
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Dehydration	ORPHA:289548
Trichorhinophalangeal Syndrome, Type Iii	Epidermal hyperkeratosis	OMIM:190351
Adrenocortical Carcinoma	Palpitations, Hypokalemia, Increased body weight, Weight loss, Hypertension	ORPHA:1501
Parkinson Disease 4, Autosomal Dominant	Weight loss, Orthostatic hypotension	OMIM:605543
Mandibuloacral Dysplasia	Acanthosis nigricans, Abnormality of skin pigmentation, Thin skin	ORPHA:2457
Behçet Disease	Pleural effusion, Splenomegaly, Orchitis, Abnormal myocardium morphology, Lymphadenopathy, Pancre...	ORPHA:117
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Abnormal circulating lipid conce...	ORPHA:186
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Isolated Permanent Neonatal Diabetes Mellitus	Dehydration	ORPHA:99885
Giant Cell Arteritis	Vasculitis, Epistaxis, Cerebral ischemia, Arrhythmia, Weight loss, Sudden cardiac death, Pericard...	ORPHA:397
Camurati-Engelmann Disease	Hypertrophic cardiomyopathy, Hypogonadism, Leukopenia, Splenomegaly, Hepatomegaly, Delayed pubert...	ORPHA:1328
Ullrich Congenital Muscular Dystrophy 1A	Follicular hyperkeratosis	OMIM:254090
Distal Renal Tubular Acidosis	Dehydration	ORPHA:18
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Weight loss	ORPHA:2126
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Pulmonary artery stenosis, Hepat...	ORPHA:667
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content	OMIM:619259
Chime Syndrome	Erythema, Hyperkeratosis, Ichthyosis, Skin ulcer	ORPHA:3474
Pseudoxanthoma Elasticum	Cutis laxa, Yellow papule, Civatte bodies	OMIM:264800
Cystic Echinococcosis	Hyperbilirubinemia, Splenic cyst, Increased circulating antibody level, Eosinophilia, Weight loss	ORPHA:400
Palmoplantar Keratoderma, Epidermolytic, 2	Palmoplantar hyperkeratosis	OMIM:620411
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Recurrent upper respiratory tract infections, Recurrent pneumonia...	OMIM:301000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Slender build, Death in early adulthood, Cachexi...	OMIM:603041
Juvenile Nephropathic Cystinosis	Dehydration	ORPHA:411634
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation	OMIM:613988
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform lesion	ORPHA:85436
Liposarcoma	Weight loss	ORPHA:69078
8P23.1 Microdeletion Syndrome	Hypertrophic cardiomyopathy, Obesity, Weight loss, Patent ductus arteriosus	ORPHA:251071
Reactive Arthritis	Aortic regurgitation, Joint swelling, Pustule, Weight loss, Hyperkeratosis, Pericarditis	ORPHA:29207
Osteopetrosis, Autosomal Recessive 7	Recurrent pneumonia, Splenomegaly, Hepatomegaly, Anemia, Hypocalcemic seizures	OMIM:612301
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Recurrent respiratory infections, Splenomegaly	OMIM:612132
Kawasaki Disease	Palmoplantar erythema, Scaling skin on fingertip	ORPHA:2331
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenomegaly, Hepatomegaly, Thro...	OMIM:263700
Multiple Endocrine Neoplasia Type 1	Confetti-like hypopigmented macules, Dehydration, Large cafe-au-lait macules with irregular margins	ORPHA:652
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Cachexia, Melena...	ORPHA:79076
Pyomyositis	Weight loss, Sudden cardiac death, Recurrent cutaneous abscess formation, Leukocytosis	ORPHA:764
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Lymphatic Filariasis	Hyperpigmentation of the skin, Hyperkeratosis	ORPHA:2035
Koolen-De Vries Syndrome Due To A Point Mutation	Hypopigmentation of the skin, Fair hair, Vitiligo, Ichthyosis, Numerous nevi, Hyperkeratosis, Caf...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypopigmentation of the skin, Fair hair, Vitiligo, Ichthyosis, Numerous nevi, Hyperkeratosis, Caf...	ORPHA:363958
Thymic Neuroendocrine Tumor	Weight loss, Hypercalcemia	ORPHA:97289
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss	ORPHA:216866
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Hypertensive crisis, Generalized edema, Hyperkalemi...	ORPHA:544482
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypogonadism, Hepatomegaly, Splenomegaly	ORPHA:163746
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
Tetrasomy 12P	Cachexia	ORPHA:884
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Cardiomegaly, Abnormal cardiac septum morphology, Recurrent res...	ORPHA:97297
Marburg Hemorrhagic Fever	Petechiae, Dehydration	ORPHA:99826
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomega...	OMIM:243800
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Arteritis, Decreased retinol-binding protein level, Increas...	ORPHA:449395
Addison Disease	Normocytic anemia, Hypotension, Failure to thrive, Thiamine-responsive megaloblastic anemia, Hype...	ORPHA:85138
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Renal Nutcracker Syndrome	Syncope, Weight loss, Orthostatic hypotension, Anemia, Tachycardia	ORPHA:71273
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Hepatosplenomeg...	ORPHA:576
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration	ORPHA:268
Floating-Harbor Syndrome	Varicocele, Glandular hypospadias, Mesocardia, Cryptorchidism, Atrial septal defect, Epididymal c...	OMIM:136140
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Hepatomegaly, Vaginal atresia	OMIM:617088
X-Linked Creatine Transporter Deficiency	Cachexia, Abnormal circulating creatine concentration	ORPHA:52503
Gerstmann-Straussler Disease	Weight loss, Cerebellar atrophy	OMIM:137440
Cystinosis, Nephropathic	Dehydration	OMIM:219800
Cystic Fibrosis	Dehydration	OMIM:219700
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Aredyld Syndrome	Cachexia, Splenomegaly	ORPHA:1133
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Pleural effusion, Cardiomegaly, Hepatomegaly, Right atria...	ORPHA:1677
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets	OMIM:208000
Atypical Werner Syndrome	Thin skin, Skin ulcer, Premature graying of hair, White forelock, Abnormality of retinal pigmenta...	ORPHA:79474
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Molluscoid pseudotumors, Excessive wrinkled skin, Palmoplantar cutis laxa, Follicular hyperkerato...	OMIM:225400
Glucagonoma	Gastrointestinal hemorrhage, Ascites, Acanthocytosis, Skin rash, Weight loss, Pruritus, Hypercalc...	ORPHA:97280
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Hypertrophic cardiomyopathy, Respiratory tract infection, Elevated circulating creat...	ORPHA:365
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening, Abnormality of dermal melano...	ORPHA:73223
Steinert Myotonic Dystrophy	Male hypogonadism, Dilated cardiomyopathy, Cholelithiasis, Impotence, Decreased response to growt...	ORPHA:273
Floating-Harbor Syndrome	Precocious puberty, Varicocele, Tetralogy of Fallot, Mesocardia, Cryptorchidism, Atrial septal de...	ORPHA:2044
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Atypical scarring of skin, Hypopigmentation of the skin, Skin ulcer, Hyperpigmentation of the ski...	ORPHA:95455
Rett Syndrome	Cachexia, Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Acrodermatitis Enteropathica	Pustule, Weight loss, Failure to thrive	ORPHA:37
Perry Syndrome	Weight loss	OMIM:168605
Primary Fanconi Renotubular Syndrome	Dehydration	ORPHA:3337
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Abnormal cerebellum morphology	ORPHA:300605
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Cholestasis, Hyperbilirubinemia, Congenital hepatic fib...	OMIM:619534
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Weight loss, Abnormal circulating creatine concentration	ORPHA:440437
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Proximal Renal Tubular Acidosis	Dehydration	ORPHA:47159
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Dilated cardiomyopathy, Weight loss, Mitral regurgitation	OMIM:607459
Fanconi Anemia, Complementation Group A	Anemic pallor, Cafe-au-lait spot, Abnormality of skin pigmentation	OMIM:227650
Oromandibular Dystonia	Weight loss	ORPHA:93958
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Atrophic scars, Cutis laxa, Follicular hyperkeratosis	OMIM:614557
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular septal def...	ORPHA:3472
Yellow Fever	Neutrophilia, Shock, Reduced left ventricular ejection fraction, Elevated circulating creatinine ...	ORPHA:99829
Ramon Syndrome	Pigmentary retinopathy, Hyperkeratosis	OMIM:266270
Williams Syndrome	Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Poly...	ORPHA:904
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Fair hair, Blue irides, Generalized hypopigmentation, Hyperkeratosis, Thin skin	OMIM:129900
Fatal Familial Insomnia	Weight loss	OMIM:600072
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir...	OMIM:164310
Infantile Krabbe Disease	Cachexia, Failure to thrive, Abnormal heart rate variability	ORPHA:206436
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Short Syndrome	Weight loss	ORPHA:3163
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive	ORPHA:217346
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Peripheral edema, Increased pulmonary vascular resistance, Weight loss...	ORPHA:60025
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Pneumothorax	ORPHA:91387
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Macular edema, Elevated circulating creatinine concentration, Reduced hematocr...	ORPHA:91500
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Weight loss, Granulomatosis, Retinal hemorrhage, Localized pulmonary...	OMIM:608710
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Macroorchidism	ORPHA:93
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Somatostatinoma	Gastrointestinal hemorrhage, Ascites, Weight loss, Hypochromic microcytic anemia, Hypercalcemia	ORPHA:97283
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:97286
Bannayan-Riley-Ruvalcaba Syndrome	Lymphedema, Telangiectasia, Angina pectoris, Cachexia, Intracranial hemorrhage	ORPHA:109
Sarcoidosis	Chylothorax, Leukopenia, Hypercalcemia, Portal hypertension, Pleural effusion, Joint swelling, In...	ORPHA:797
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Hypokalemia, Weight lo...	ORPHA:91347
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity	ORPHA:813
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Xerostomia, Increased circulating IgG4 level, Increased circulating IgA level, Weig...	ORPHA:79078
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nevus, Hyperparakeratosis	ORPHA:276280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Fair hair, Hyperkeratosis, Blue irides, Generalized hypopigmentation	OMIM:604292
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Hypertension, Weight loss, Raynaud phenomenon, Thromb...	ORPHA:536
Mucoepithelial Dysplasia, Hereditary	Follicular hyperkeratosis	OMIM:158310
Amyotrophic Lateral Sclerosis	Cachexia, Xerostomia	ORPHA:803
Ablepharon Macrostomia Syndrome	Dry skin, Redundant skin, Excessive wrinkled skin, Abnormality of skin pigmentation, Thin skin	ORPHA:920
Schwartz-Jampel Syndrome	Death in infancy, Elevated circulating creatine kinase concentration, Decreased body weight, Arrh...	ORPHA:800
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss, Edema	ORPHA:309031
Ppoma	Ascites, Gastrointestinal hemorrhage, Weight loss, Hypercalcemia	ORPHA:97278
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Fabry Disease	Subcutaneous nodule, Hyperkeratosis	ORPHA:324
Warburg-Cinotti Syndrome	Erythema, Follicular hyperkeratosis, Thin skin	OMIM:618175
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Weight loss, Joint swelling	ORPHA:85408
Fanconi Anemia	Hypertrophic cardiomyopathy, Leukopenia, Oligohydramnios, Weight loss, Thrombocytopenia, Anemia, ...	ORPHA:84
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Gallbladder Neuroendocrine Tumor	Ascites, Weight loss	ORPHA:100086
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia...	ORPHA:64
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity	ORPHA:85293
Grfoma	Ascites, Gastrointestinal hemorrhage, Weight loss, Hypercalcemia	ORPHA:97261
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Hereditary Late-Onset Parkinson Disease	Orthostatic hypotension due to autonomic dysfunction, Weight loss	ORPHA:411602
Trisomy 18	Cachexia, Oligohydramnios, Chiari malformation	ORPHA:3380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Papule, Hyperkeratosis, Ichthyosis	ORPHA:2273
Klatskin Tumor	Weight loss	ORPHA:99978
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Failure to thrive	ORPHA:1018
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Follicular hyperkeratosis, Thin skin	ORPHA:536545
Leprechaunism	Thickened skin, Acanthosis nigricans, Hyperkeratosis	ORPHA:508
Parathyroid Carcinoma	Weight loss, Hypophosphatemia, Hypercalcemia, Shortened QT interval	ORPHA:143
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Transient ischemic attack, Left ventricular systolic...	ORPHA:740
Cockayne Syndrome	Cerebellar dentate nucleus calcification, Cerebellar atrophy, Malar rash, Splenomegaly, Hyperuric...	ORPHA:191
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Weight loss, Hypercalcemia	ORPHA:913
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Dry skin, Hyperkeratosis	OMIM:210710
Lynch Syndrome	Gastrointestinal hemorrhage, Death in early adulthood, Weight loss, Death in infancy	ORPHA:144
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Lymphopenia, Peripheral edema, Capillary fragility, Leukocytosis, Increased body weight, Re...	ORPHA:99889
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Malt Lymphoma	Anemia, Weight loss	ORPHA:52417
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Congenital Fiber-Type Disproportion Myopathy	Polyhydramnios, Weight loss, Failure to thrive	ORPHA:2020
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Ascites, Adrenal calcification, Hypophosphatemic rickets, Cardiomegaly, ...	ORPHA:51608
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Weight loss	ORPHA:1333
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Nocardiosis	Weight loss, Pleural effusion, Cutaneous abscess, Pericarditis	ORPHA:31204
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Epidermal acanthosis	ORPHA:83617
Choreoacanthocytosis	Dilated cardiomyopathy, Acanthocytosis, Splenomegaly, Elevated circulating creatine kinase concen...	ORPHA:2388
Pancreatoblastoma	Weight loss	ORPHA:677
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Slender build, Mitral regurgitation, Cachexia, Ve...	ORPHA:558
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Pleural effusion, Cardiomegaly, Mitral valve c...	OMIM:182250
Tropical Pancreatitis	Weight loss	ORPHA:103918
Seckel Syndrome	Cachexia	ORPHA:808
Goodpasture Syndrome	Anemia, Pulmonary hemorrhage, Weight loss, Increased blood urea nitrogen	OMIM:233450
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Stickler Syndrome	Slender build, Arrhythmia, Cachexia	ORPHA:828
Norrie Disease	Cachexia, Aplasia/Hypoplasia of the cerebellum, Failure to thrive	ORPHA:649

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 Krt1

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 Krt1.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A role for keratins in supporting mitochondrial organization and function in skin keratinocytes.	Molecular biology of the cell (March 2020)	Krt16^{tm1(KOMP)Vlcg}	32213122
Altered keratinocyte differentiation is an early driver of keratin mutation-based palmoplantar keratoderma.	Human molecular genetics (July 2019)	Krt16^{tm1(KOMP)Vlcg}	31220272
Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.	The Journal of investigative dermatology (December 2017)	Krt16^{tm1(KOMP)Vlcg}	PMC5912985
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Krt17^{tm1.1(KOMP)Vlcg}	PMC5503261
Long-lived keratin 15+ esophageal progenitor cells contribute to homeostasis and regeneration.	The Journal of clinical investigation (May 2017)	Krt15^{tm1(KOMP)Vlcg}	PMC5451220
Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.	The Journal of clinical investigation (May 2016)	Krt16^{tm1(KOMP)Vlcg}	PMC4887188
Keratin 16 regulates innate immunity in response to epidermal barrier breach.	Proceedings of the National Academy of Sciences of the United States of America (November 2013)	Krt16^{tm1(KOMP)Vlcg}	PMC3845144
Keratin 16-null mice develop palmoplantar keratoderma, a hallmark feature of pachyonychia congenita and related disorders.	The Journal of investigative dermatology (February 2012)	Krt16^{tm1(KOMP)Vlcg}	PMC3326191

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MGI Allele	Allele Type	Produced
Krt1^{tm96263(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Krt1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Krt1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

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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Gene: Krt1 MGI:96698

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Krt1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data