Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
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
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
Eczema, Scaling skin, Ichthyosis ORPHA:79323
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
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
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
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
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
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