banner
Genes Phenotypes Help, News, Blog

Gene: Ikbkg MGI:1338074

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
inhibitor of kappaB kinase gamma
Synonyms:
1110037D23Rik,  NEMO,  IKK[g]

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ikbkg mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Incontinentia Pigmenti
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... OMIM:308300
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m... ORPHA:98813
Incontinentia Pigmenti
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ... ORPHA:464
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands OMIM:300291
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Allergic rhi... ORPHA:90368
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia OMIM:131800
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Papule OMIM:244850
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ... ORPHA:158681
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism, Delayed puberty ORPHA:2297
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Porokeratosis 8, Disseminated Superficial Actinic Type
Porokeratosis, Papule OMIM:616063
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis, Skin nodule ORPHA:199267
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis OMIM:101900
Porokeratosis Plantaris Palmaris Et Disseminata
Porokeratosis, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hyperkeratotic... ORPHA:737
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Alopecia, Hypergranulosis, Palmop... ORPHA:79395
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... OMIM:619208
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:617574
Bathing Suit Ichthyosis
Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Ichth... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenita... OMIM:242300
Bazex Syndrome
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na... ORPHA:166113
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha... OMIM:300918
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... OMIM:173200
Congenital Panfollicular Nevus
Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Papule ORPHA:1336
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali... OMIM:607602
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Hyperkeratosis, Porokeratosis ORPHA:735
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk... ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Parana Hard Skin Syndrome
Generalized hyperpigmentation, Short stature, Thickened skin, Growth delay, Hyperkeratosis, Gener... ORPHA:2812
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Gene... OMIM:612281
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer ORPHA:31112
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... OMIM:604777
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea, Hyp... ORPHA:90158
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru... ORPHA:79399
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Vulvovaginal Gingival Syndrome
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema ORPHA:83453
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly, Ichthyosis ORPHA:2274
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... OMIM:113800
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Lympha... ORPHA:2584
Linear Atrophoderma Of Moulin
Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation ORPHA:140933
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... ORPHA:505
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration
Hepatosplenomegaly, Ichthyosis OMIM:242520
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta... ORPHA:89838
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Hyperpigmentation of the skin, Excessive wrinkling of... ORPHA:263534
Ichthyosis With Confetti
Short stature, Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Hypoplastic nippl... OMIM:609165
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich... OMIM:607936
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis OMIM:615028
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... ORPHA:2897
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis OMIM:615785
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... ORPHA:79151
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Subcutaneous nodule OMIM:618339
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... ORPHA:312
Sézary Syndrome
Hepatomegaly, Alopecia, Pruritus, Splenomegaly, Tremor, Lymphadenopathy, Palmoplantar keratoderma... ORPHA:3162
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... ORPHA:2269
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Eczema, Allergic rhini... OMIM:256500
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... OMIM:614204
Spinocerebellar Ataxia 34
Ataxia, Epidermal hyperkeratosis, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochok... OMIM:133190
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Pruritu... OMIM:607626
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Failure to thr... ORPHA:79394
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... OMIM:616295
Omenn Syndrome
Hepatomegaly, Failure to thrive, Alopecia, Eosinophilia, Pneumonia, Pruritus, Thickened skin, Leu... ORPHA:39041
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkerato... OMIM:608649
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Acrokeratoelastoidosis Of Costa
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu... ORPHA:38
Darier Disease
Hypermelanotic macule, Acrokeratosis, Abnormal hair morphology, Pruritus, Thickened skin, Abnorma... ORPHA:218
Erythrokeratodermia Variabilis
Alopecia, Short stature, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Pa... ORPHA:317
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... ORPHA:79397
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Hypomelanotic macule, Scalin... OMIM:618373
Omenn Syndrome
Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thickene... OMIM:603554
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis, Hypergranulosis OMIM:615696
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Short stature, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dys... OMIM:618625
Necrobiosis Lipoidica
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atrophic scars, Granuloma, Annular cutaneous... ORPHA:542592
Peeling Skin Syndrome 3
Pruritus, Erythema, Abnormal hair morphology, White scaling skin OMIM:616265
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... ORPHA:498359
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Erythroderma, Palmoplantar keratoderma, Conjunctivitis, ... OMIM:242150
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... OMIM:212360
Erythrokeratodermia Variabilis Et Progressiva 1
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... OMIM:133200
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... OMIM:145250
Elastosis Perforans Serpiginosa
Skin-colored papule, Cutis laxa, Hyperkeratotic papule, Erythematous papule, Serpiginous cutaneou... ORPHA:79148
Familial Keratoacanthoma
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer ORPHA:493
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... OMIM:604536
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Parakeratosis, Pancytopenia, Aplastic anemia, He... ORPHA:398124
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... ORPHA:2199
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Invasive Mole
Menometrorrhagia ORPHA:99925
Lichen Planopilaris
Hypopigmented skin patches, Skin ulcer, Hepatitis, Hyperkeratosis, Dermal atrophy, Papule ORPHA:525
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Short stature, Fine hair, Melanocytic nevus, Hyperkeratosis, Fre... ORPHA:1573
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma, Hypergranulosis, Ichthyosis OMIM:615022
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, ... OMIM:615225
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Erythroderma, Ichthyosis OMIM:618840
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Skin vesicle, Blepharitis, Abnor... ORPHA:254478
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scaling skin, Depigmentation/hyperpigmentation ... ORPHA:90283
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... ORPHA:79481
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... OMIM:617294
Lamellar Ichthyosis
Pruritus, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic otitis media, Abnormalit... ORPHA:313
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Eosinop... ORPHA:293173
Chilblain Lupus
Hyperkeratosis, Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia ORPHA:90280
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... OMIM:615508
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... ORPHA:454831
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... ORPHA:2722
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Eryth... OMIM:304790
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Chromomycosis
Erythematous macule, Hyperparakeratosis, Subcutaneous nodule, Verrucous papule, Hypopigmented ski... ORPHA:182
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro... OMIM:614457
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, Lymphadenopathy... OMIM:150550
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule OMIM:247100
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ... ORPHA:507
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... OMIM:606367
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... OMIM:148700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Peeling Skin Syndrome 1
Brittle hair, Short stature, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma OMIM:270300
Recessive X-Linked Ichthyosis
Cryptorchidism, Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Ichthyosis ORPHA:1954
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Pruritus, Thickened skin, Abnormality of the spleen, Erythroderma, Lymphadenopathy,... ORPHA:79456
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Epidermal acanthosis, Angular cheilitis, Sparse eyelashes, Sparse axillary hai... OMIM:613102
Cutaneous Mastocytoma
Maculopapular exanthema, Hypermelanotic macule, Pruritus, Thickened skin, Erythema, Scaling skin,... ORPHA:79455
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Trichothiodystrophy 1, Photosensitive
Brittle hair, Small for gestational age, Trichoschisis, Flexion contracture, Absence of subcutane... OMIM:601675
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C... ORPHA:169154
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Congenital Disorder Of Glycosylation, Type If
Ataxia, Flexion contracture, Hyperkeratosis, Hypertonia, Erythroderma, Failure to thrive OMIM:609180
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... OMIM:615023
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Short stature ORPHA:2574
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... OMIM:224750
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia, Palmoplantar hyperkeratosis OMIM:309560
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Familial Benign Chronic Pemphigus
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion ORPHA:2841
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail d... OMIM:131960
Basan Syndrome
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Hypermelanotic macule OMIM:129200
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... OMIM:617525
Cole Disease
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Erythema, Hype... ORPHA:816
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:2028
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja... ORPHA:540
Ichthyosis Vulgaris
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis OMIM:146700
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash ORPHA:163525
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi... OMIM:605676
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Hepatosplenomegaly, Erythematous plaque, Hemophagocytosis, Erythematous papule ORPHA:86884
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm... OMIM:618535
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Progressive hyperpigmentation, Epidermal acanthosis, Eczema, Allerg... ORPHA:330064
Harlequin Ichthyosis
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis ORPHA:457
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Leukocytosis, C... OMIM:615895
Reticular Dysgenesis
Abnormality of neutrophils, Skin ulcer, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia ORPHA:33355
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Erythroderma, Pruritus ORPHA:280785
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, Onychogryposis OMIM:614328
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased ... OMIM:619510
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... OMIM:602400
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar... ORPHA:247353
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... OMIM:308800
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Irida Syndrome
Hyperkeratosis, Intrahepatic cholestasis, Pallor, Ichthyosis ORPHA:209981
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis OMIM:148600
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Growth delay, Abnormality of skin pigmentation, Palmoplantar keratode... ORPHA:79402
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Dracunculiasis
Recurrent cutaneous abscess formation, Subcutaneous nodule, Skin ulcer ORPHA:231
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... ORPHA:346
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Erythema, Scaling skin ORPHA:90156
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... ORPHA:2890
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... ORPHA:2200
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ... ORPHA:1010
Prolidase Deficiency
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis,... ORPHA:742
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype... ORPHA:59303
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Short stature, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, ... ORPHA:158668
Ichthyosis, Congenital, Autosomal Recessive 2
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, G... OMIM:242100
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... OMIM:614561
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches, Palmop... ORPHA:2251
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Short stature, Eczema, Allergic rhini... OMIM:618131
Aicardi-Goutieres Syndrome 5
Chilblains, Dry skin, Scaling skin OMIM:612952
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis,... ORPHA:494
Chilblain Lupus 1
Skin ulcer OMIM:610448
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Thrombocytosis, Steril... OMIM:604416
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th... ORPHA:229717
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Dry skin, Hyper... OMIM:612379
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Proteus Syndrome
Epidermal nevus, Splenomegaly, Hyperkeratosis, Nevus, Lymphangioma OMIM:176920
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Darier-White Disease
Ridged nail, Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratot... OMIM:124200
Palmoplantar Keratoderma, Epidermolytic, 1
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... OMIM:144200
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Abno... ORPHA:33364
Trichothiodystrophy 9, Nonphotosensitive
Ataxia, Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding OMIM:619692
Meige Disease
Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Lymph node hypoplas... ORPHA:90186
Ollier Disease
Anemia, Lymphangioma, Subcutaneous nodule, Skin ulcer ORPHA:296
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Interphalangeal joint contracture of finger, Widow's peak, Atopic dermatitis, Knee flexion contra... OMIM:606242
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Skin ulcer ORPHA:217390
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Alopecia, Epidermal acanthosis, Short stature, Erythema, Hyperkeratosis, Mild intr... OMIM:308050
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni... OMIM:302960
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion, Short stature OMIM:616298
Leopard Syndrome 3
Few cafe-au-lait spots, Curly hair, Short stature, Epidermal hyperkeratosis, Low posterior hairli... OMIM:613707
Acrogeria
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Dermatitis, Atopic
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of amb... OMIM:615010
Sandhoff Disease, Adult Form
Reduced beta-hexosaminidase activity, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dyston... ORPHA:309169
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Hereditary Sensory And Autonomic Neuropathy Type 1
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology ORPHA:222
Clouston Syndrome
Alopecia, Brittle hair, Short stature, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Spa... OMIM:129500
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma OMIM:610163
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Buerger Disease
Skin ulcer ORPHA:36258
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail OMIM:614928
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Porphyria Cutanea Tarda, Type I
Eczema, Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp, Ataxia OMIM:136300
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Cardiomegaly, Follicular hyperkeratosis, Congenital bullous ichthyosifo... OMIM:613576
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, An... OMIM:616029
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites, Skin ulcer ORPHA:834
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hyperkeratosis, Keratoconjunctiviti... ORPHA:238468
Pyoderma Gangrenosum
Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule ORPHA:48104
Chronic Mucocutaneous Candidiasis
Dyspareunia, Erythema, Hepatitis, Skin ulcer, Hyperkeratosis, Papule ORPHA:1334
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Dystrophic fingernails, Thin nail, Sparse eye... OMIM:257980
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... OMIM:612843
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... OMIM:606545
Ectodermal Dysplasia-Blindness Syndrome
Short stature, Abnormal fingernail morphology, Skin ulcer, Fine hair, Abnormality of skin pigment... ORPHA:1806
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Inguinal hernia, Ataxia, Cryptorchidism, Fine hair, Gait disturbance, Sparse hair ORPHA:1174
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Noonan Syndrome 8
Curly hair, Short stature, Eczema, Patent ductus arteriosus, Hyperkeratosis, Palmoplantar cutis l... OMIM:615355
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Small for gestational age, Ataxia, Decreased response to growth hormone stimulation tes... ORPHA:3363
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenomegaly, Skin ulcer, Abnormality... ORPHA:91138
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Abnormal circulating enzyme concentration or activity, Tremor, Inability to walk, ... ORPHA:2590
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis OMIM:615147
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair OMIM:614931
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Viral hepatitis, Hyperpigmentation of the skin, Hypertrichos... ORPHA:101330
Chronic Granulomatous Disease
Macule, Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Mediastin... ORPHA:379
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure ORPHA:659
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly... ORPHA:3260
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
De Sanctis-Cacchione Syndrome
Parakeratosis, Severe short stature, Hypermelanotic macule, Keratitis, Conjunctivitis OMIM:278800
Copper Deficiency, Familial Benign
Curly hair, Seborrheic dermatitis, Early balding, Failure to thrive, Anemia OMIM:121270
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... OMIM:275400
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Short stature, Hyperkeratosis, Coarse hair, Sparse hair ORPHA:1883
Spinocerebellar Ataxia 37
Tremor, Unsteady gait, Frequent falls, Ataxia OMIM:615945
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Abnormality ... ORPHA:47
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Pallor,... OMIM:615234
Mednik Syndrome
Hyperkeratosis, Intrahepatic cholestasis, Ichthyosis ORPHA:171851
Syndromic Recessive X-Linked Ichthyosis
Cryptorchidism, Acute leukemia, Hyperkeratosis, Hypogonadism, Ichthyosis, Testicular seminoma ORPHA:281090
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Short stature, Skin rash, Sparse eyebrow, Recurrent pneumonia, Reticular ... OMIM:604173
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... ORPHA:678
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Head titubation, Sparse eyebrow, Trichorrhexis nodosa, Babinski sign, Spastic diplegia, A... OMIM:619691
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H... ORPHA:79431
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Abnormality of ... ORPHA:178320
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... ORPHA:83617
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... OMIM:607317
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Ataxia, Poor motor coordination, Reduced intra... ORPHA:363400
Brooke-Spiegler Syndrome
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Prolidase Deficiency
Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Skin ulcer, Prolonged neonatal jaundice,... OMIM:170100
Intellectual Developmental Disorder, Autosomal Recessive 5
Broad-based gait, Small for gestational age, Eczema, Synophrys, Achilles tendon contracture, Hype... OMIM:611091
Reynolds Syndrome
Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites, Sclerodactyly ORPHA:779
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Scaling skin, Periungual erythema, Atrichia, Neonatal death, Dystrophic ... OMIM:308205
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch... OMIM:614700
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Incontinentia Pigmenti
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... OMIM:308300
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer ORPHA:220402
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Eczema, Trichorrhexis nodosa, Atopic dermatitis, Coarse hair, Spar... OMIM:301845
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Cerebral palsy, Elevated circulating g... ORPHA:2796
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Mpdu1-Cdg
Eczema, Scaling skin, Ichthyosis ORPHA:79323
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Phenylketonuria
Eczema, Blue irides, Dry skin, Generalized hypopigmentation, Fair hair, Scleroderma OMIM:261600
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spastici... OMIM:616719
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Pachyonychia Congenita 2
Subungual hyperkeratosis, Sparse scalp hair, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Pemphigus Erythematosus
Malar rash, Hypopigmented skin patches, Acantholysis ORPHA:79480
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... ORPHA:486
Lymphatic Malformation 4
Hydrocele testis, Hyperkeratosis OMIM:615907
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... ORPHA:216873
Ramon Syndrome
Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism ORPHA:3019
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy, Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body h... ORPHA:1818
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Abnormality of the lymphatic system, Hydr... ORPHA:276280
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Acanthosis nigricans, Hepatic... OMIM:612526
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... OMIM:610768
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Progressive spastic quadriplegia, Dec... ORPHA:2985
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia OMIM:616576
Familial Multiple Nevi Flammei
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule ORPHA:624
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ataxia, Postural tremor, Limb joint contracture, Seborrheic dermatitis, Splenomegal... OMIM:301072
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424019
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Acquired Purpura Fulminans
Macule, Erythematous macule, Pyoderma gangrenosum, Macular purpura, Thrombocytopenia ORPHA:49566
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Obesity, Sparse body hair ORPHA:85274
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Erythroderma OMIM:617425
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Sple... OMIM:253260
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... ORPHA:1028
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Increased int... ORPHA:276435
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reticular hyperpigmentation, Generalized reticulate brown pi... OMIM:301220
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail OMIM:181600
Werner Syndrome
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Secondary amenorrhea, Skin ulcer, Decrea... ORPHA:902
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... ORPHA:521406
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Ichthyosis, Decreased C... OMIM:618495
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Abnormality of skin pigmentation, Sparse hair, Sparse bod... ORPHA:1810
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Sparse body hair, Failure to thrive, Decreased testicular size ORPHA:261483
Takayasu Arteritis
Anemia, Subcutaneous nodule, Skin ulcer ORPHA:3287
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Pachyonychia Congenita 1
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis OMIM:167200
Recon Progeroid Syndrome
Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, Keratoconjunctiviti... OMIM:620370
Ataxia-Telangiectasia
Elevated hepatic transaminase, Failure to thrive, Hypopigmentation of hair, Ataxia, Tremor, Polyc... ORPHA:100
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Short stature, Eczema, Ichthyosis ORPHA:3055
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Autoinflammation With Arthritis And Dyskeratosis
Epidermal acanthosis, Thyroiditis, Palmoplantar hyperkeratosis, Uveitis, Growth delay, Keratoconj... OMIM:617388
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Sialidosis Type 1
Ataxia, Tremor, Splenomegaly, Slurred speech, Hyperkeratosis, Gait disturbance, Myoclonus, Hernia ORPHA:812
Papa Syndrome
Skin ulcer, Lymphadenopathy ORPHA:69126
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Patent ductus arteriosus... OMIM:614576
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Abnormal odontoid tissue morphology ORPHA:401911
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hepatitis, In... ORPHA:158061
Costello Syndrome
Deep-set nails, Generalized hyperpigmentation, Short stature, Redundant skin, Abnormal fingernail... ORPHA:3071
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Ulcerative colitis, Skin ... ORPHA:555905
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Hepatomega... OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Atrophic sca... ORPHA:79410
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... ORPHA:251282
Dyskeratosis Congenita
Macule, Hepatomegaly, Neoplasm of the pancreas, Aplasia/Hypoplasia of the skin, Hypermelanotic ma... ORPHA:1775
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Polyarteritis Nodosa
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:767
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... ORPHA:2309
Trichohepatoenteric Syndrome 2
Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hai... OMIM:614602
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Erythema, Malar rash,... ORPHA:330058
Flynn-Aird Syndrome
Dermal atrophy, Skin ulcer ORPHA:2047
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Follicular hyperplasia, Pu... OMIM:615934
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... OMIM:602032
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia OMIM:612126
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Subcutaneous nodule, Hepa... OMIM:612840
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hir... OMIM:610185
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Subcutaneous nodule, Skin ul... ORPHA:228119
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Sple... OMIM:612852
Naxos Disease
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... OMIM:601214
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Atrophic scars, Follicular hyperkeratosis ORPHA:300179
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... OMIM:618282
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti... ORPHA:85436
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m... ORPHA:98813
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, S... OMIM:615688
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... OMIM:602450
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hypochromic microcytic a... ORPHA:96123
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis OMIM:609638
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Infantile Systemic Hyalinosis
Thickened skin, Subcutaneous nodule, Aplasia/Hypoplasia of the thymus, Skin ulcer ORPHA:2176
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Melanonychia, Abnormality of retinal pigmentation, Severe short stature, Abnormal eyelash morphol... ORPHA:2526
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan... ORPHA:158673
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs... OMIM:148210
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Pancreatitis, Septic a... ORPHA:544482
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... ORPHA:79501
Donohue Syndrome
Hypermelanotic macule, Postnatal growth retardation, Hyperkeratosis, Nail dysplasia, Acanthosis n... OMIM:246200
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow ORPHA:50944
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Flexion contracture, Ichthyosis, Sparse body hair, Aplasia/Hypoplasi... ORPHA:2850
Corticobasal Syndrome
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... ORPHA:454887
Elastoderma
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa ORPHA:228240
Schnitzler Syndrome
Macule, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia, Papule ORPHA:37748
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro... OMIM:619693
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hepatomegaly, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Hyperkeratosis, Abnormality of ext... ORPHA:79279
Sea-Blue Histiocytosis
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Subcutaneous nodule, Sea-blue... ORPHA:158029
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Atrophic scars, Sparse hair, Distichiasis, Sparse latera... ORPHA:79133
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Glutathionuria
Eczema, Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Action tremor OMIM:231950
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Brittle hair, Sparse eyelashes, Tremor, Inability to w... OMIM:617988
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Absent eyebrow, Alopecia, Membranoproliferative glomerulonephritis, Sparse eyelashes, Sparse scal... OMIM:137940
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Infantile Myofibromatosis
Neoplasm of the pancreas, Subcutaneous nodule, Skin ulcer ORPHA:2591
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Erythema ORPHA:90160
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomeg... ORPHA:2930
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, T lymphocytopenia... OMIM:300400
Bone Marrow Failure Syndrome 3
Aplastic anemia, Pancreatic steatosis, Hernia, Neutropenia, Sparse hair, Amelogenesis imperfecta,... OMIM:617052
Incontinentia Pigmenti
Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious encephalitis, ... ORPHA:464
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Mediastinal lymphadenopathy, Lymphaden... ORPHA:545
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Short stature OMIM:615279
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Akinesia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly... OMIM:608013
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous... ORPHA:542643
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Filippi Syndrome
Dystonia, Cryptorchidism, Decreased body weight, Sparse hair, Frontal hirsutism, Hypertrichosis OMIM:272440
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Gonadal dysgenesis... OMIM:611926
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Epidermal acanthosis, Long eyelashes OMIM:616069
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryptorchidism, ... ORPHA:3051
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... OMIM:613280
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer, Eosinophilia, Papule ORPHA:2314
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, L... OMIM:617591
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Infantile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Ataxia, Tremor, Chorea, Unsteady gait, Dys... ORPHA:79263
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Ankle flexion contracture, Tremor, Splenomeg... OMIM:608799
Hatipoglu Immunodeficiency Syndrome
Fair hair, Eczema, Proportionate short stature, Hyperpigmented/hypopigmented macules, Thickened s... OMIM:620331
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Hepatic necrosis, Nail pits, Anemia, Leukopenia, ... OMIM:127550
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Severe short stature, Moderate postnatal growth retardation, Hyperkeratosis, Ichthyosis... ORPHA:1005
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Th... ORPHA:824
Milroy Disease
Toenail dysplasia, Hyperkeratosis, Erysipelas ORPHA:79452
Toxic Epidermal Necrolysis
Macule, Acantholysis, Thrombocytopenia, Erythema, Skin ulcer, Neutropenia, Pancreatitis, Anemia ORPHA:537
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Bronchiectasis, Sparse hair, Aspiration pneumonia, Neutropenia, Loss o... OMIM:618253
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... OMIM:615726
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Anemia OMIM:608068
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Ataxia, Inability to walk, Dysmetria, Sparse hair, Dystonia, Oculomotor apraxia, Spasticity, Hirs... OMIM:618087
Classic Phenylketonuria
Hypopigmentation of hair, Eczema, Lack of skin elasticity, Growth delay, Hypopigmentation of the ... ORPHA:79254
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, General... ORPHA:2963
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis ORPHA:36237
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia OMIM:128235
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Leprosy
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Testicular mass,... ORPHA:548
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Myelofibrosis
Myeloproliferative disorder, Splenomegaly, Pallor, Purpura OMIM:254450
Aredyld
Generalized hypotrichosis OMIM:207780
Cardiofaciocutaneous Syndrome
Brittle hair, Short stature, Redundant skin, Slow-growing hair, Generalized hyperpigmentation, Ab... ORPHA:1340
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Congenital generalized lipod... OMIM:608154
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... ORPHA:397946
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Letterer-Siwe Disease
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto... OMIM:246400
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair OMIM:129490
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Aplasia/Hypoplasia of the skin, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, P... ORPHA:79083
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Small for gestational age, Cryptorchidism, Gait ataxia, Fine hair, Truncal ataxia... OMIM:616817
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Ataxia, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Failure to thrive OMIM:616353
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Patent ... OMIM:275210
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... ORPHA:202
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Throm... OMIM:619463
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Subcutaneous nodule, Lymphadenopathy, Annular cutaneous lesion, B lympho... OMIM:618048
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Fanconi Anemia, Complementation Group S
Ataxia, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse hair, ... OMIM:617883
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Growth delay, Nail dysplasia, Delayed puberty, Erysip... OMIM:615704
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Gm1 Gangliosidosis
Tremor, Decreased beta-galactosidase activity, Decerebrate rigidity, Aspiration pneumonia, Infect... ORPHA:354
Malakoplakia
Abnormality of the menstrual cycle, Follicular hyperplasia, Orchitis, Subcutaneous nodule, Skin u... ORPHA:556
Restrictive Dermopathy
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Cerebral palsy, Seborrheic dermatitis, Opisthotonus, Propionyl-CoA carboxylase deficien... OMIM:210210
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Congenital nonbullous ichthy... ORPHA:85212
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... OMIM:300055
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Focal Facial Dermal Dysplasia 3, Setleis Type
Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes OMIM:227260
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Short stature, Eczema, Hyperkeratosis, Loose anagen hair, Long eye... OMIM:607721
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Aplasia/Hypoplasia of the skin, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, X... ORPHA:2348
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Hereditary Acrokeratotic Poikiloderma
Erythema, Hypopigmented skin patches, Skin ulcer, Palmoplantar hyperkeratosis, Thin skin, Ichthyo... ORPHA:2907
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema ORPHA:90159
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis, Delayed puberty ORPHA:486815
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
Trichothiodystrophy 5, Nonphotosensitive
Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Gait ataxia, Reduced hair sulf... OMIM:300953
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... OMIM:158310
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Growth delay, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive ORPHA:477673
Lymphatic Malformation 12
Hydrocele testis, Hyperkeratosis, Fetal ascites OMIM:620014
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Tremor, Inability to walk, ... OMIM:617013
Myoectodermal Gonadal Dysgenesis Syndrome
Short stature, Highly arched eyebrow, Sparse eyebrow, Sparse pubic hair, Frontal upsweep of hair,... OMIM:618419
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Clonus, Tremor, Splenomegaly, Leukocytosis, ... OMIM:615673
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Thickened skin... ORPHA:436252
Typhoid
Hepatomegaly, Skin rash, Ataxia, Tremor, Splenomegaly, Hypertonia, Infectious encephalitis ORPHA:99745
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dysmetria, Adductor lo... OMIM:210000
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Umbilical hernia ORPHA:87876
Calciphylaxis
Skin ulcer ORPHA:280062
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Tyrosinemia Type 2
Ataxia, Tremor, Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail ORPHA:28378
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... OMIM:261640
Parkinsonism-Dystonia 2, Infantile-Onset
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... OMIM:618049
Cortisone Reductase Deficiency 1
Alopecia, Acne, Hirsutism OMIM:604931
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Mycetoma
Abdominal mass, Pelvic mass, Subcutaneous nodule, Abnormality of the lymphatic system, Cobbleston... ORPHA:2583
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Microscopic Polyangiitis
Peritonitis, Erythema, Subcutaneous nodule, Skin ulcer, Pancreatitis ORPHA:727
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair OMIM:234030
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Ichthyosis, Increased circulating lactate dehydr... OMIM:185070
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Small for gestational age, Pruritus, Tremor, Jaundice, ... ORPHA:69665
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair, Moderate postnatal growth retardation OMIM:118650
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair OMIM:601453
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Thickened skin, Acne, Seborrheic dermatitis OMIM:614441
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... ORPHA:302
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Riddle Syndrome
Short stature, Pneumonia, Erythema, Recurrent pneumonia, Arthritis, Scaling skin, Otitis media, R... ORPHA:420741
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Petechiae, Splenomegaly, Anemia, Purpura OMIM:620296
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Lelis Syndrome
Yellow nails, Absent lower eyelashes, Palmoplantar hyperkeratosis, Sparse hair, Nail dystrophy, A... ORPHA:140936
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Acanthosis nigricans, Sparse hair, Elevated hepatic transaminase, Polycystic ovaries OMIM:268020
Fucosidosis
Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder, Abnormal pyramidal sign, Spastic tetra... ORPHA:349
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... OMIM:615157
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Skin ulcer ORPHA:220393
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Delayed puberty OMIM:618985
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Stuve-Wiedemann Syndrome 2
Neonatal death, Intrauterine growth retardation, Stillbirth, Eczema OMIM:619751
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Hirsutism, Acne OMIM:612847
Atelis Syndrome 1
Eczema, Bronchiectasis, Cafe-au-lait spot, Irregular hyperpigmentation, Dry skin OMIM:620184
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Skin ulcer ORPHA:464343
Noonan Syndrome 10
Curly hair, Short stature, Sparse eyebrow, Patent ductus arteriosus, Hyperkeratosis, Palmoplantar... OMIM:616564
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Erythema, Skin rash, Purpura ORPHA:889
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Erythema, Rheumatoid arthritis, Hyperpigmentation of the skin ORPHA:48377
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive OMIM:616494
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... OMIM:300635
Chime Syndrome
Erythema, Skin ulcer, Acute leukemia, Hyperkeratosis, Ichthyosis ORPHA:3474
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... ORPHA:79477
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Inguinal hernia, Ataxia, Cryptorchidism, Dysmetria, Truncal obesity, Dysdiadoch... OMIM:616541
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Hand ... OMIM:302800
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Recurrent otitis medi... OMIM:620321
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Skin rash, Small for gestational age, Spa... ORPHA:2909
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... ORPHA:240094
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Thick eyebrow, Ataxia, Low anterior hairline, Long eyelashes, Sparse hair, Hirsutism OMIM:616819
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Hyp... OMIM:214500
Cushing Disease
Leukocytosis, Amenorrhea, Skin ulcer, Secondary amenorrhea, Thin skin, Oligomenorrhea, Abnormal l... ORPHA:96253
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... ORPHA:99750
Blau Syndrome
Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Anemia, Abnormality of the liver, Ichthyosis... ORPHA:90340
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair, Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... OMIM:106260
Noonan Syndrome 2
Curly hair, Short stature, Sparse eyebrow, Patent ductus arteriosus, Low posterior hairline, Hype... OMIM:605275
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,... OMIM:115150
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Broad-based gait, Small for gestational age, Dorsocervical fat pad, Synophrys, Low anterior hairl... ORPHA:391408
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Sparse body... ORPHA:1133
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Spastic ataxia, Tremor, Babinski sign, Slurred speech, Unsteady gait, Flexion contracture, Clumsi... ORPHA:137898
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Mirage Syndrome
Cryptorchidism, Thrombocytopenia, Patent ductus arteriosus, Paraplegia, Leukopenia, Aspiration pn... OMIM:617053
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Hyperpigmentation of the skin, Erythema, Depigmentation/hype... ORPHA:79396
Adult Syndrome
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te... OMIM:615280
Fixed Drug Eruption
Stomatitis, Erythema, Hyperpigmentation of the skin, Crusting erythematous dermatitis ORPHA:293812
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... ORPHA:2457
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Rectal abscess, Skin ulcer OMIM:116920
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation ORPHA:163966
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Patent ductus arteriosus, Palmoplantar hyperkeratosis, Arthritis, Eczemato... OMIM:259100
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... OMIM:606693
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... OMIM:147060
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Absent facial hair, Obesity, Low posterior hairline ORPHA:2183
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Spontaneous Periodic Hypothermia
Tremor, Gait disturbance, Skin rash, Ataxia ORPHA:29822
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... ORPHA:29207
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... ORPHA:3077
Xeroderma Pigmentosum
Alopecia, Short stature, Hypermelanotic macule, Keratitis, Thickened skin, Erythema, Hypopigmente... ORPHA:910
Even-Plus Syndrome
Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow OMIM:616854
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Appendicular spasticity, Cerebral palsy, Flexion contracture, Sparse hair, Failure to thrive OMIM:620001
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Anterior hypopituitarism, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:181
Warty Dyskeratoma
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Cryptorchidism,... ORPHA:2872
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Ataxia, Pneumonia, Pure red cell aplasia, Autoimmune thro... OMIM:613179
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Slowed slurred speech, Spar... ORPHA:284180
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Paronychia, Low alkaline phosphatase, Alopecia of sca... OMIM:201100
Ataxia-Telangiectasia
Failure to thrive, Sinusitis, Ataxia, Tremor, Inability to walk, Abnormal hair morphology, Slurre... OMIM:208900
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... ORPHA:70594
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Short stature, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin OMIM:601701
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... OMIM:129400
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Periarticular subcutaneous nodules, Lipogranulom... OMIM:228000
Gand Syndrome
Sparse hair OMIM:615074
Mycosis Fungoides
Pruritus, Erythema, Eczema, Psoriasiform dermatitis OMIM:254400
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Anemia, Premature graying of hair, Abnormalit... OMIM:612199
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Skin rash ORPHA:1658
Bethlem Myopathy
Waddling gait, Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle fl... ORPHA:610
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Cheilitis, Abnormality of skin pigmentation, Hyperkeratosis,... ORPHA:2908
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Cryptorchidism, Umbilical hernia OMIM:273390
Ddost-Cdg
Elevated hepatic transaminase, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive, Hepati... ORPHA:300536
Adams-Oliver Syndrome
Alopecia, Portal hypertension, Congenital hepatic fibrosis, Aplastic/hypoplastic toenail, Hemipar... ORPHA:974
Eec Syndrome
Short stature, Slow-growing hair, Keratitis, Sparse eyebrow, Nail pits, Fine hair, Inflammatory a... ORPHA:1896
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Brain Dopamine-Serotonin Vesicular Transport Disease
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... ORPHA:352649
Aceruloplasminemia
Refractory anemia, Abnormal circulating enzyme concentration or activity, Torticollis, Dystonia, ... ORPHA:48818
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... OMIM:300908
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Systemic Sclerosis
Cutaneous sclerotic plaque, Digital pitting scar, Thickened skin, Spotty hypopigmentation, Digita... ORPHA:90291
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Late-Infantile/Juvenile Krabbe Disease
Abnormal circulating enzyme concentration or activity, Lower limb spasticity, Ataxia, Tremor, Slu... ORPHA:206443
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Alopecia of... OMIM:103285
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Mottled pigmentation, Eczema ORPHA:1525
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... OMIM:312080
Acrodermatitis Enteropathica
Erythema, Dry skin, Skin ulcer ORPHA:37
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Chronic active hepatitis, Biliary cirrhosis, Skin ulcer, Lymphade... ORPHA:289390
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Few cafe-au-lait spo... OMIM:619503
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Obesity, Sparse hair, Oculomotor apraxia, Decreased testicular size OMIM:619185
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Thrombocytopenia OMIM:611490
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis ORPHA:79099
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Alopecia, P... ORPHA:37042
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Thickened skin, Acne, Seborrheic dermatitis OMIM:167100
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, Hepatospleno... ORPHA:2072
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Giant Cell Arteritis
Mediastinal lymphadenopathy, Skin ulcer ORPHA:397
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... OMIM:618877
Immunodeficiency 55
Short stature, Recurrent skin infections, Eczema, Postnatal growth retardation, Ichthyosis, Intra... OMIM:617827
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentration, He... ORPHA:542323
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H... ORPHA:79430
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Hypopigmented skin p... ORPHA:381
Rhizomelic Chondrodysplasia Punctata
Alopecia, Sparse body hair, Ichthyosis ORPHA:177
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Keratoconjunctivitis s... OMIM:234050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Lower limb spasticity, Hip contracture, Seborrheic dermatitis, Large for gestationa... OMIM:300868
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hajdu-Cheney Syndrome
Hepatomegaly, Splenomegaly, Thickened skin, Skin ulcer, Dry skin ORPHA:955
Immunodeficiency 43
Subcutaneous nodule, B lymphocytopenia, Reduced natural killer cell count, Lung abscess OMIM:241600
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ... OMIM:235200
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ... ORPHA:1807
Fg Syndrome 3
Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture OMIM:300406
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Failure to thrive, Hyperconvex nail, Eczema OMIM:619721
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Synophrys, Low posterior hairline, Clumsiness, Thin eyebrow, Sparse hair OMIM:619320
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Dermoodontodysplasia
Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair ORPHA:1660
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Chédiak-Higashi Syndrome
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes,... ORPHA:167
Congenital Short Bowel Syndrome
Sparse hair, Lipoatrophy ORPHA:2301
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Eczema, Small for gestational age, Thin nail, Inability to walk, V... OMIM:617799
Braddock-Carey Syndrome 1
Curly hair, Spastic diplegia, Camptodactyly, Sparse hair, Enamel hypoplasia, Thrombocytopenia OMIM:619980
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Synophrys, Palmoplantar hyper... ORPHA:3253
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Failure to thrive, Tremor, Sple... OMIM:615512
Bone Marrow Failure Syndrome 4
Rhizomelia, Dry skin, Short stature, Eczema OMIM:618116
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... ORPHA:52368
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hyperkeratosis, Subcutaneous nodule, Papule, Cardiomegaly ORPHA:79280
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema ORPHA:33577
Cutis Laxa, Autosomal Recessive, Type Iiia
Inguinal hernia, Cryptorchidism, Athetosis, Sparse hair, Umbilical hernia, Failure to thrive OMIM:219150
Ramon Syndrome
Short stature, Hyperkeratosis, Pigmentary retinopathy, Juvenile rheumatoid arthritis, Hypertrichosis OMIM:266270
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Juvenile rheuma... ORPHA:275
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Brittle hair, Small for gestational age, Curly hair, Increased m... OMIM:222470
Macs Syndrome
Alopecia, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Ichthyosis, Recurrent aphthous stomatit... OMIM:613075
Agammaglobulinemia 6, Autosomal Recessive
B lymphocytopenia, Abnormal T cell morphology OMIM:612692
Revesz Syndrome
Aplastic anemia, Ataxia, Nail pits, Fine hair, Hypertonia, Bone marrow hypocellularity, Nail dyst... OMIM:268130
Scrub Typhus
Anterior uveitis, Skin rash, Tremor, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encep... ORPHA:83317
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Ataxia With Vitamin E Deficiency
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... ORPHA:96
Cutaneous Collagenous Vasculopathy
Pruritus, Erythema, Skin rash, Petechiae ORPHA:280779
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Brittle hair, Small for gestational age, Failure to thrive in infancy, Poor coo... OMIM:618891
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Curly hair, Long eyebrows, Cryptorchidism, Low posterior hairli... OMIM:613224
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Flexion contracture, Small nail OMIM:617396
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Inability... OMIM:128100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Recurrent skin infections, Ocular albinism OMIM:614171
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Increased circulating lactate dehydrogenase... OMIM:619405
Immunoglobulin A Vasculitis
Macule, Orchitis, Erythema, Skin ulcer, Purpura ORPHA:761
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Ruijs-Aalfs Syndrome
Lipodystrophy, Hepatocellular carcinoma, Elbow flexion contracture, Premature graying of hair, De... OMIM:616200
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the lymphatic syste... ORPHA:69735
Atypical Werner Syndrome
Aplasia/Hypoplasia of the skin, Premature ovarian insufficiency, Lack of skin elasticity, Skin ul... ORPHA:79474
Hartnup Disease
Skin rash, Short stature, Hypopigmented skin patches, Irregular hyperpigmentation, Infectious enc... ORPHA:2116
Parkes Weber Syndrome
Skin ulcer, Abnormal lymphatic vessel morphology, Erythematous plaque, Capillary malformation, Sc... ORPHA:90307
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Menkes Disease
Alopecia, Brittle hair, Babinski sign, Hypertonia, Sparse hair OMIM:309400
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Exaggerated startle response, Incoordinati... ORPHA:845
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424016
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stomatocytosis,... OMIM:153670
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Broad-based gait, Eczema, Seborrheic dermatitis, Obesity, Hemiparesis, Abnorma... ORPHA:369950
Granulomatosis With Polyangiitis
Granulomatosis, Skin ulcer OMIM:608710
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Shukla-Vernon Syndrome
Sparse hair, Broad-based gait OMIM:301029
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Flexion contracture, Follicular hyperkeratosis, Failure to thrive, Slender build OMIM:254090
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Tremor, Inability to walk, Dysmetria, Limb ataxia, Multiple lipomas, Dysdiado... OMIM:617675
19Q13.11 Microdeletion Syndrome
Cachexia, Supernumerary nipple, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Nail dyspl... ORPHA:217346
2Q32Q33 Microdeletion Syndrome
Sparse hair, Decreased testicular size, Fine hair ORPHA:251019
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... ORPHA:240071
Agel Amyloidosis
Ataxia, Pruritus, Keratoconjunctivitis sicca, Abnormal spleen morphology, Nail dystrophy, Sparse ... ORPHA:85448
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology, Abnormal dental enamel ... ORPHA:1515
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
Dermatomyositis
Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Erythema, Skin ulcer, Dry skin, P... ORPHA:221
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia OMIM:618969
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Juvenile Dermatomyositis
Erythema, Dry skin, Skin ulcer ORPHA:93672
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Rhinitis, H... OMIM:614941
Amoebiasis Due To Free-Living Amoebae
Subcutaneous nodule, Skin ulcer, Granuloma, Increased red blood cell count, Papule ORPHA:68
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Curly hair, Sparse eyebrow, Hyposegmentation of neutrophil nuclei, Synophrys, Sparse hair OMIM:620075
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Onycholysis, Seborrheic dermatitis OMIM:104570
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Ataxia, Eczema, Tremor, Synophrys, Spastic diplegia, Gait disturbance, Gait imbalance, Sparse hai... OMIM:300966
Chronic Graft Versus Host Disease
Pancytopenia, Thickened skin, Erythema, Intermittent generalized erythematous papular rash, Skin ... ORPHA:99921
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... OMIM:168605
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... OMIM:606721
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Tre... ORPHA:525731
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior h... ORPHA:247768
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Amenorrhea, S... ORPHA:99889
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly OMIM:610644
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy OMIM:619183
Erythema Elevatum Diutinum
Skin vesicle, Skin rash ORPHA:90000
Familial Benign Copper Deficiency
Early balding, Short stature, Acne ORPHA:1551
Transketolase Deficiency
Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Conjunctivitis ORPHA:488618
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Inguinal hernia, Eczema, Sparse medial eyebrow, Cryp... OMIM:601358
3-Methylglutaconic Aciduria, Type Viib
Dystonia, Ataxia, Tremor, Recurrent pneumonia, Flexion contracture, Opisthotonus, Choreoathetosis... OMIM:616271
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Granulomatosis With Polyangiitis
Skin ulcer, Granulomatosis, Prostatitis, Pancreatitis, Papule, Purpura ORPHA:900
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Sparse body hair, Decreased testicular size, Obesity ORPHA:2234
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia ORPHA:884
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Bronchiectasis, Atopic d... OMIM:243700
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Fair hair, Sparse ... OMIM:250250
Desbuquois Syndrome
Sparse hair, Camptodactyly of finger, Abnormal eyelash morphology ORPHA:1425
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema OMIM:177000
Premature Aging Syndrome, Penttinen Type
Flexion contracture of finger, Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Hyperker... OMIM:601812
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive ORPHA:2316
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Sparse hair, Hepatomegaly, E... OMIM:280000
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Keratoconjunctivitis, Growth delay, Perioral eczema ORPHA:79242
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Ataxia, Portal hypertension, Highly... ORPHA:1454
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Failure to thrive OMIM:602361
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, Absent eyela... OMIM:305100
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Trem... ORPHA:85293
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Small for gestational age, Camptodactyly of finger OMIM:610756
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor ORPHA:90033
Dermatitis Herpetiformis
Skin vesicle, Erythema, Eczema, Pruritus ORPHA:1656
Autosomal Erythropoietic Protoporphyria
Pruritus, Erythema, Eczema ORPHA:79278
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... OMIM:188400
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Woodhouse-Sakati Syndrome
Alopecia, Growth delay, Scaling skin, Delayed puberty, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Adiposis Dolorosa
Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry skin ORPHA:36397
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... ORPHA:79095
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Ataxia, Abnormal fingernail morphology, Slow-growing hair, Abnormal den... ORPHA:2710
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches, Periarticu... ORPHA:53715
Bullous Pemphigoid
Erythema, Eczema, Psoriasiform dermatitis ORPHA:703
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Menkes Disease
Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Thickened skin, Chorea, Atypical scarri... ORPHA:565
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... OMIM:608612
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Camptodactyly of toe, Truncal obesity, Sparse hair, Decreased testicular size, Th... ORPHA:127
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Leukopenia, B lymphocytope... ORPHA:508542
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Waddling gait, Tre... OMIM:615356
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Down Syndrome
Abnormality of the lymphatic system, Obesity, Gait disturbance, Sparse hair, Umbilical hernia, Ac... ORPHA:870
Bainbridge-Ropers Syndrome
Thick eyebrow, Supernumerary nipple, Highly arched eyebrow, Inability to walk, Cryptorchidism, Sy... OMIM:615485
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Cryptorch... OMIM:613026
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Plague
Hepatomegaly, Lymphadenitis, Localized skin lesion, Splenomegaly, Skin ulcer, Enlarged mesenteric... ORPHA:707
Adult-Onset Autosomal Dominant Leukodystrophy
Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign... ORPHA:99027
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Multi... OMIM:601186
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Small for gestational age, Alopecia total... ORPHA:221008
Simple Cryoglobulinemia
Viral hepatitis, Localized skin lesion, Chronic lymphatic leukemia, Acral ulceration, Purpura ORPHA:91139
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Fine hair, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Spa... OMIM:222700
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Weaver Syndrome
Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Patent ductus arteriosus, Slurred spe... OMIM:277590
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Chromosome 5P13 Duplication Syndrome
Sparse hair, Small for gestational age, Low posterior hairline OMIM:613174
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Eruptive xanthomas, Pancreatitis OMIM:207750
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Arthritis, Inflammation of the... ORPHA:324964
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodular cirrhosis,... OMIM:256810
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Wilson Disease
Acute hepatic failure, Tremor, Osteoarthritis, Hand tremor, Limb dystonia, Hepatic steatosis, Hyp... OMIM:277900
De Barsy Syndrome
Inguinal hernia, Lipodystrophy, Cryptorchidism, Patent ductus arteriosus, Athetosis, Progressive ... ORPHA:2962
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair, Dystonia OMIM:614105
Listeriosis
Liver abscess, Tremor, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephalitis, Un... ORPHA:533
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Skin ulcer, Atypical scarring of skin, Anemia, Azoospermia, Thrombocytopenia ORPHA:534
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Nevus OMIM:620189
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Bronchiectasis, Atopic dermatitis... ORPHA:436159
Short Syndrome
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Sparse ... ORPHA:3163
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Adams-Oliver Syndrome 5
Portal vein thrombosis, Hypersplenism, Splenomegaly, Cutis marmorata telangiectatica congenita, A... OMIM:616028
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C... OMIM:620005
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Abnormality of the liver, Progre... ORPHA:646
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Scarf Syndrome
Inguinal hernia, Cryptorchidism, Hepatocellular adenoma, Low posterior hairline, Hypoplastic nipp... ORPHA:3134
Congenital Disorder Of Glycosylation, Type Iia
Thick eyebrow, Unsteady gait, Hypertonia, Long eyelashes, Sparse hair, Failure to thrive, Hirsutism OMIM:212066
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... OMIM:190350
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Abnormal subcutaneous fat tissue distribution, Coarse... ORPHA:357074
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Extrapyramida... ORPHA:51
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thickened skin, Synophrys, Abnormality of dermal melanosomes, Hypopl... ORPHA:73223
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, T lympho... OMIM:600802
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Ataxia, Small for gestational age, T... OMIM:133540
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:604292
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Porokeratosis, Aplastic anemia, Small for gestational age, Alopecia total... ORPHA:221016
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Acne, Abnormal dental enamel morphology, Abnormality of the ... ORPHA:567
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, Spasticity, Ataxia, High anterior hairline OMIM:615510
Sitosterolemia 1
Reticulocytosis, Tuberous xanthoma, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma,... OMIM:210250
White-Sutton Syndrome
Waddling gait, Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesity, Sparse hair, F... OMIM:616364
Cutis Laxa, Autosomal Recessive, Type Iiib
Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Athet... OMIM:614438
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Sparse scalp hair, Splenomegaly, Aplasia of the sweat glands, Sparse hair, Failure ... OMIM:612132
Kikuchi-Fujimoto Disease
Macule, Erythematous macule, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Skin no... ORPHA:50918
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hepatomegaly, Dry hair, Hip contracture, Ataxia, Tremor, Spl... OMIM:216400
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Leprechaunism
Facial hypertrichosis, Hepatomegaly, Enlarged ovaries, Reduced subcutaneous adipose tissue, Thick... ORPHA:508
Blau Syndrome
Intermittent generalized erythematous papular rash, Skin ulcer OMIM:186580
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:129900
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Abnormal intrahepatic bile duct morphology, Premat... ORPHA:363618
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count, Increased circulating IgM level, Decreased ... OMIM:242860
Hamamy Syndrome
Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Microcytic anemia, Sparse eyebrow, Cryptor... OMIM:611174
Kallmann Syndrome
Ataxia, Tremor, Cryptorchidism, Breast hypoplasia, Paraplegia, Obesity, Gait disturbance, Ichthyo... ORPHA:478
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Arthritis, Keratoconjunctivi... ORPHA:809
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... ORPHA:95455
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... OMIM:258360
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Neurodegeneration With Brain Iron Accumulation 4
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Abnor... OMIM:614298
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Alopecia, Brittle hair, Ataxia, Abnormal dental enamel morphology,... ORPHA:2750
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic nipples, Small nail OMIM:273400
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules OMIM:139090
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Inguinal hernia, Brittle hair, Increased iduronate sulfatase level, Sparse eyebrow,... OMIM:252500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar... ORPHA:1071
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia OMIM:617763
Phosphoribosylpyrophosphate Synthetase Superactivity
Small for gestational age, Ataxia, Cryptorchidism, Gout, Sparse hair, Increased phosphoribosylpyr... OMIM:300661
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Patchy alopecia, Iritis OMIM:109650
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Weight loss, Periodic paralysis, Goiter OMIM:613239
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Thickened skin, Splenomegaly, Jaundice, Atypical scarring of skin... OMIM:263700
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Irregular hyperpigmentation, Dry skin, Abnormal... ORPHA:428
Oculodentodigital Dysplasia
Dry hair, Ataxia, Slow-growing hair, Paraparesis, Uveitis, Fine hair, Tetraparesis, Joint contrac... OMIM:164200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Patent ductus arteriosus, L... OMIM:617506
Renal-Hepatic-Pancreatic Dysplasia 1
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hep... OMIM:208540
African Trypanosomiasis
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnormal central motor f... ORPHA:3385
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Sparse hair, Lymphopenia OMIM:619745
Estrogen Resistance
Breast aplasia, Acne, Acanthosis nigricans, Delayed puberty OMIM:615363
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Highly arched eyebrow, Splenomegaly, Cryptorchidism, Hepatosple... OMIM:613563
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Small for gestational age, Sparse eyelashes, Absent ... OMIM:268400
Dpagt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Lipodystrophy, Akinesia, Tremor, Thickened s... ORPHA:86309
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... OMIM:615530
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
B4Galt1-Cdg
Inflammatory abnormality of the skin, Redundant neck skin ORPHA:79332
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Waddling gait, Small for gestational age, Small nail, Nail dysplasia, Sparse hair, Failure to thr... OMIM:614813
Hallermann-Streiff Syndrome
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, R... OMIM:234100
Chikungunya
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythematous d... ORPHA:324625
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Synovitis, Abnormal inflammat... ORPHA:77297
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Re... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Eczema, Postnatal growth retardation, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Re... ORPHA:363958
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Hypertonia, Acanthosis ... ORPHA:3455
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Eruptive xanthomas, Hepatosplenomegaly, Pancreatitis OMIM:238600
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections ORPHA:94059
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Marshall-Smith Syndrome
Omphalocele, Brittle hair, Highly arched eyebrow, Bilateral cryptorchidism, Cryptorchidism, Paten... OMIM:602535
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration OMIM:256800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lower limb spasticity, Broad-based gait, Cryptorchidism, Fine hair, Hypertonia, Sparse hair, Decr... ORPHA:251028
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Sparse eyelashes, Cholangitis, Spar... OMIM:613610
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... ORPHA:183675
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Hypermelanotic macule, Orchitis, Peritonitis, Eryth... ORPHA:32960
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Numerous pigmented freckles, Dry skin, Short stature ORPHA:220295
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Hepatic fibrosis, Nail dysplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Myhre Syndrome
Ataxia, Small for gestational age, Thickened skin, Patent ductus arteriosus, Cryptorchidism, Obes... OMIM:139210
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Patent ductus arteriosus, He... OMIM:274000
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Low anterior hairline, Obesity, Dysmetria, Gait ataxia, Hyperkeratosis, Fa... ORPHA:75857
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Absent hair OMIM:614940
Agammaglobulinemia, X-Linked
Epididymitis, Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymphocyt... OMIM:300755
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Complete Androgen Insensitivity Syndrome
Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair, Delayed p... ORPHA:99429
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Spasticity, Recurrent pneumonia, Inguinal hernia OMIM:616449
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Scleroderma, Lymphopenia, S... OMIM:613471
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168600
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Syno... ORPHA:793
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Palmar hyperkeratosis, Dystrophic fingernails... OMIM:150400
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Thickened skin, Pyelonephritis, Fine hair, Multiple lipo... OMIM:181270
Metachromatic Leukodystrophy
Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Dystonia, Tremor, ... ORPHA:512
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Pyoderma gangrenosum, Recurr... ORPHA:2968
Rodrigues Blindness
Sparse hair, Fine hair OMIM:268320
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Acanthocytosis, Tremor, Rigidity, Babinski sign, ... OMIM:234200
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair OMIM:613451
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair OMIM:257850
Kanzaki Disease
Hyperkeratosis, Dry skin, Petechiae OMIM:609242
Scarf Syndrome
Inguinal hernia, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nippl... OMIM:312830
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Clonus, Tremor, Patent ductus arteriosus, Jaundice, Hypertonia, Neutropenia, Neonatal d... OMIM:617248
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse hair, Sparse eyelashes, Sparse eyebrow OMIM:224900
Glass Syndrome
Broad-based gait, Inguinal hernia, Long eyelashes, Nail dysplasia, Camptodactyly, Sparse hair OMIM:612313
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Short stature, Acne, Hyperpigmentation of the skin, Hirsutism ORPHA:90795
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Sparse eyebrow, Cryptorchidism, Fine hair, Sparse hair, ... ORPHA:444072
Gapo Syndrome
Hepatomegaly, Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sp... OMIM:230740
Cowden Syndrome
Macule, Enlarged polycystic ovaries, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic... ORPHA:201
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Recurrent pancreatitis, Pancreatitis OMIM:615947
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Molluscum contagiosum, Aplasia of the eccrine sweat glands OMIM:300291
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an... OMIM:608156
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,... ORPHA:2108
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Hip contracture, Sparse eyelashes, Shoulder flexion contracture, Sparse eyebro... OMIM:210710
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Sparse eyebrow, Flexion con... OMIM:619127
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Atrophic scars, Joint contracture, Decreased body weight OMIM:615349
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Ataxia, Tremor, Splenomegaly, Osteoarthritis, Hemipleg... ORPHA:355
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Inguinal hernia, Patent ductus arteriosus, Atrophic scars, Follicular hyperkeratos... OMIM:614557
Hawkinsinuria
Sparse hair, Failure to thrive OMIM:140350
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Cryptorchidism, Fine hair, Frontal upsweep of hair,... OMIM:305450
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc... ORPHA:2232
Marshall Syndrome
Sparse hair, Osteoarthritis, Sparse eyelashes, Sparse eyebrow ORPHA:560
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Anterior pituitary hypoplasia, Highly arched eyebrow, Aplasia of the right hem... OMIM:619841
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Short stature, Hyperpigmentation of the skin, Sparse axillary hair, Erythema nodosu... OMIM:256040
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Small for gestational age, Decreased response to growth hormone stimulation test OMIM:614114
Cranioectodermal Dysplasia 1
Hepatomegaly, Inguinal hernia, Slow-growing hair, Thin nail, Malformation of the hepatic ductal p... OMIM:218330
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Cartilage-Hair Hypoplasia
Hepatomegaly, Sparse eyebrow, Abnormality of the pancreas, Neutropenia, Sparse hair, Failure to t... ORPHA:175
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Woodhouse-Sakati Syndrome
Alopecia, Fine hair, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia, Spa... OMIM:241080
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse body hair, ... ORPHA:432
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cirrhosis, Sparse hair OMIM:614099
Progeria-Short Stature-Pigmented Nevi Syndrome
Premature ovarian insufficiency, Hypospadias, Hypergonadotropic hypogonadism, Microcytic anemia, ... ORPHA:2959
Fabry Disease
Left ventricular hypertrophy, Hyperkeratosis, Subcutaneous nodule, Anemia ORPHA:324
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... ORPHA:391487
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, T lymphocytopenia, B lymphocytopeni... OMIM:251260
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Hiatus hernia, Cryptorchidism, Patent ductus arteriosus, Unsteady gait, Sparse hair, Nail dysplas... OMIM:616682
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Limb hypertonia OMIM:609460
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyperkeratosis, Palmoplan... OMIM:225400
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Neurocardiofaciodigital Syndrome
Small for gestational age, Sparse eyebrow, Patent ductus arteriosus, Sparse hair, Failure to thrive OMIM:619869
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Patent ductus arteriosus, Hepatic steatosis, Joint contracture of the 5th finger OMIM:619934
Costello Syndrome
Deep-set nails, Curly hair, Thin nail, Concave nail, Achilles tendon contracture, Sparse hair, Ac... OMIM:218040
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Cachexia, Enlarged po... ORPHA:744
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia ORPHA:293978
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Hypoplastic nipples, Smal... OMIM:620186
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Failure to thrive, Sparse eyebrow OMIM:244450
Teebi-Shaltout Syndrome
Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Sparse hair OMIM:272950
Orofaciodigital Syndrome I
Dry hair, Alopecia, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Sparse hair, Enamel hypopla... OMIM:311200
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Alg12-Cdg
Cryptorchidism, B lymphocytopenia, Redundant skin, Thrombocytopenia ORPHA:79324
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgG2 level, Leukopenia, T lym... OMIM:242840
Lenz-Majewski Hyperostotic Dwarfism
Inguinal hernia, Anterior pituitary hypoplasia, Cryptorchidism, Elbow flexion contracture, Knee f... OMIM:151050
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Pseudohypoparathyroidism, Obesity, Sparse hair, Frontal hirsutism, Failure to thrive OMIM:617157
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Ablepharon Macrostomia Syndrome
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes, Fi... ORPHA:920
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Knee flexion contracture, Camptodactyly, Sparse hair, Contracture of t... OMIM:601559
Craniolenticulosutural Dysplasia
Sparse hair, Cryptorchidism, Coarse hair, Brittle hair OMIM:607812
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, B lymphocytopenia, Neutropenia OMIM:601495
Warburg-Cinotti Syndrome
Erythema, Thin skin, Follicular hyperkeratosis, Sterile abscess OMIM:618175
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse axillary hair, Enlarged polycystic ovaries... ORPHA:90796
Kyphoscoliotic Ehlers-Danlos Syndrome
Inguinal hernia, Synophrys, Atypical scarring of skin, Difficulty walking, Follicular hyperkerato... ORPHA:536545
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Prostatitis, Absent circulating B cells OMIM:307200
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Refractory Celiac Disease
Inflammatory abnormality of the skin ORPHA:398063
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Membranoproliferative gl... ORPHA:48435
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Split Cord Malformation
Skin dimple, Penetrating foot ulcers ORPHA:573278
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Pneumonia ORPHA:26793
Wrinkly Skin Syndrome
Inguinal hernia, Lipodystrophy, Cryptorchidism, Slurred speech, Progressive cerebellar ataxia, Sp... ORPHA:2834
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Roberts Syndrome
Progressive flexion contractures, Cryptorchidism, Knee flexion contracture, Sparse hair, Wrist fl... ORPHA:3103
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Aplas... ORPHA:83471
Focal Dermal Hypoplasia
Ridged nail, Omphalocele, Inguinal hernia, Brittle hair, Supernumerary nipple, Congenital diaphra... OMIM:305600
Scalp-Ear-Nipple Syndrome
Sparse hair, Abnormal fingernail morphology, Breast aplasia, Pyelonephritis ORPHA:2036
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Alopecia, Rigidity, Cryptorchidism, Loss of eyelashes, Hypertonia, Thin eyebrow, Sparse hair, Spa... ORPHA:2636
Primary Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Pancreatitis, Ichthyosis ORPHA:565612
Renpenning Syndrome 1
Brittle hair, Camptodactyly, Sparse hair, Spasticity, Joint contracture of the hand, Decreased te... OMIM:309500
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Sparse scalp hair, Inguinal hernia, Bilateral cryptorchidism, Recurrent pneumo... OMIM:150230
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
Ablepharon-Macrostomia Syndrome
Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic nipples, Camptodactyly... OMIM:200110
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Ankle flexion contracture, Cryptorchidism, Patent ductus arteriosus, Biliary tr... OMIM:268300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Pallister-Killian Syndrome
Omphalocele, Sparse scalp hair, Alopecia, Inguinal hernia, Sparse eyelashes, Supernumerary nipple... OMIM:601803
Wrinkly Skin Syndrome
Inguinal hernia, Short nail, Cryptorchidism, Sparse hair, Umbilical hernia, Failure to thrive, Fr... OMIM:278250
Primrose Syndrome
Sparse scalp hair, Hip contracture, Ataxia, Absent facial hair, Bilateral cryptorchidism, Cryptor... OMIM:259050
Branchiooculofacial Syndrome
Supernumerary nipple, Cryptorchidism, Elbow flexion contracture, Low posterior hairline, Prematur... OMIM:113620
Menke-Hennekam Syndrome 1
Inguinal hernia, Cryptorchidism, Flexion contracture, Long eyelashes, Sparse hair, Umbilical hern... OMIM:618332
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636

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 Ikbkg

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 Ikbkg.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Ikbkgtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ikbkgtm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ikbkgtm44104(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter