Gene: Hr MGI:96223

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

lysine demethylase and nuclear receptor corepressor

Synonyms:

rh-bmh, rh, N, ba, bldy

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 Hr mutations

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

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

Human diseases associated with Hr (4 diseases)
Human diseases predicted to be associated with Hr (2106 diseases)

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

Disease	Matching phenotypes	Source
Alopecia Universalis Congenita	Alopecia universalis, Alopecia	OMIM:203655
Alopecia Universalis	Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes	ORPHA:701
Atrichia With Papular Lesions	Generalized papillary lesions, Sparse hair	OMIM:209500
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:444

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

Disease	Matching phenotypes	Source
Central Centrifugal Cicatricial Alopecia	Scarring alopecia of scalp	OMIM:618352
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp	OMIM:610753
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Mental Retardation Syndrome 1	Alopecia universalis	OMIM:203650
Alopecia Universalis Congenita	Alopecia universalis, Alopecia	OMIM:203655
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Pili Gemini	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab...	ORPHA:79492
Hypotrichosis 5	Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair	OMIM:612841
Alopecia Universalis	Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes	ORPHA:701
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Tented Eyebrows	Abnormal hair morphology	OMIM:611426
Hypotrichosis 4	Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair	OMIM:146550
Graying Of Hair, Precocious	Premature graying of hair	OMIM:139100
Hypotrichosis Simplex	Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ...	ORPHA:55654
Hypotrichosis 11	Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil...	OMIM:615059
Ectodermal Dysplasia 6, Hair/Nail Type	Dystrophic toenail, Alopecia, Thin toenail, Hair-nail ectodermal dysplasia, Sparse hair	OMIM:614928
Alopecia Areata 1	Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Atrichia With Papular Lesions	Generalized papillary lesions, Sparse hair	OMIM:209500
Cerebellar Ataxia And Ectodermal Dysplasia	Ectodermal dysplasia, Sparse hair, Alopecia	OMIM:212835
Syringocystadenoma Papilliferum	Subcutaneous nodule, Sparse scalp hair, Nevus sebaceous, Papule	ORPHA:840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M...	OMIM:153600
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Congenital alopecia totalis, Alopecia universalis	OMIM:104130
Dermoodontodysplasia	Ectodermal dysplasia, Thin skin, Nail dysplasia, Dry skin, Trichodysplasia	OMIM:125640
Graham Little-Piccardi-Lassueur Syndrome	Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair	ORPHA:505
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 3	Sparse scalp hair	OMIM:613981
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 14	Sparse hair, Sparse body hair	OMIM:618275
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Congenital alopecia totalis, Nail pits	ORPHA:169095
Hypotrichosis 7	Sparse eyelashes, Comedo, Woolly hair, Sparse and thin eyebrow, Sparse hair	OMIM:604379
Hypotrichosis 1	Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo...	OMIM:605389
Hypotrichosis 13	Sparse and thin eyebrow, Sparse hair, Woolly hair	OMIM:615896
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse and thin eyebrow, Alopecia, Palmoplantar keratoderma, Hypoplastic toenails, Abnormal finge...	ORPHA:2722
Occipital Hair, White Lock Of	White hair, Abnormal hair morphology	OMIM:310900
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan	Alopecia, Sparse hair	OMIM:203600
Parc Syndrome	Alopecia, Absent eyebrow, Absent eyelashes	OMIM:600331
Hypertrichosis Lanuginosa Congenita	Double eyebrow, Congenital, generalized hypertrichosis	OMIM:145700
Trichodysplasia-Xeroderma Syndrome	Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D...	ORPHA:3361
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Dermoodontodysplasia	Fingernail dysplasia, Ectodermal dysplasia, Thin skin, Melanocytic nevus, Hypohidrosis, Dry skin,...	ORPHA:1660
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly	Hyperextensible skin of chest, Long eyelashes, Hyperextensible skin of face, Periorbital wrinkles...	OMIM:227210
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Diffuse palmoplantar...	OMIM:617294
Hypotrichosis 10	Sparse eyelashes, Sparse eyebrow, Sparse body hair	OMIM:614238
Pseudopili Annulati	Abnormality of the scalp hair, Abnormality of hair texture	OMIM:613241
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia	ORPHA:1410
Ectodermal Dysplasia 4, Hair/Nail Type	Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na...	OMIM:602032
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ringed Hair Disease	Fine hair, Abnormal hair pattern	ORPHA:169
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I	ORPHA:488191
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-...	OMIM:615559
Witkop Syndrome	Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits	OMIM:189500
L-Ferritin Deficiency	Alopecia	OMIM:615604
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation	OMIM:131440
Oocyte Maturation Defect 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia...	OMIM:614929
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Ectodermal dysplasia, Atrichia, Absent eyelashes, Nail dysplasia, Co...	OMIM:614931
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Glioma Susceptibility 9	Leukemia, Glioma, Astrocytoma	OMIM:616568
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Lymphoproliferati...	OMIM:615897
Oocyte Maturation Defect 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Hidrotic Ectodermal Dysplasia	Sparse eyelashes, Palmoplantar keratoderma, Sparse pubic hair, Sparse hair, Palmoplantar hyperker...	ORPHA:189
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Plantar hyperkeratosis, Spotty hypopigmentation, Cutaneous photosensitivit...	ORPHA:79397
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati...	OMIM:202700
Angioma Serpiginosum, X-Linked	Fine hair, Nail dystrophy, Sparse hair, Hyperkeratosis	OMIM:300652
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency, Cryptorchidism, S...	OMIM:614438
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy	Generalized keratosis follicularis, Absent eyebrow, Absent eyelashes, Absent hair	OMIM:308830
Trichodysplasia-Xeroderma	Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ...	OMIM:190360
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Monilethrix	Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair	OMIM:158000
Acrogeria	Fine hair, Excessive wrinkled skin, Telangiectasia of the skin, Thin skin, Prematurely aged appea...	ORPHA:2500
Ras-Associated Autoimmune Leukoproliferative Disorder	Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Lymphoproliferative disorder,...	OMIM:614470
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type	Dystrophic fingernails, Dystrophic toenail, Hair-nail ectodermal dysplasia, Sparse or absent eyel...	OMIM:602401
Fibrinolytic Defect	Hyperextensible skin, Spontaneous hematomas	OMIM:134900
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Dry skin, Alopecia of scalp, Cutis laxa, Generalized hyperkeratosis,...	ORPHA:2269
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Anonychia With Flexural Pigmentation	Alopecia of scalp, Abnormal hair morphology, Macular telangiectasia, Follicular hyperkeratosis, H...	ORPHA:69125
Elastoderma	Premature skin wrinkling, Cutis laxa	ORPHA:228240
Aredyld	Generalized hypotrichosis, Ectodermal dysplasia	OMIM:207780
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Nail dystrophy, Alopecia, Nail pits	OMIM:601705
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Telangiectasia, Cutaneous photosensitivity, Erythematous plaque, Dystrophic toenail, Dystrophic f...	ORPHA:158673
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke...	OMIM:148730
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Recurrent otitis media, Absent eyebrow, Absent eyelashes, Thin nail, Premature ov...	OMIM:618625
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Reduced antigen-specif...	ORPHA:331206
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Palmoplantar Keratoderma And Congenital Alopecia 1	Epidermal hyperkeratosis, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmo...	OMIM:104100
Tooth Agenesis, Selective, 8	Dry skin, Sparse hair, Sparse eyebrow	OMIM:617073
Atopic Keratoconjunctivitis	Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Loss of eyelashes, D...	ORPHA:163934
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Congenital localized absence of skin, Nail dystrophy, Nail dysplasia, Fragile skin	OMIM:132000
Porphyria Cutanea Tarda	Cutaneous photosensitivity, Onycholysis, Alopecia, Facial hypertrichosis, Fragile skin	OMIM:176100
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Pili torti, Reduced terminal:vellus ratio, Sparse hair	OMIM:601553
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia, Facial erythema, Hyperkeratosis, Dry skin, Palm...	OMIM:212360
Hypotrichosis 6	Sparse eyelashes, Brittle hair, Erythema, Follicular hyperkeratosis, Pili torti, Sparse and thin ...	OMIM:607903
Insulin-Resistance Syndrome Type A	Subcutaneous nodule, Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Premature Ovarian Failure 19	Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency	OMIM:619245
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils, Sensorineural hearing impairment	ORPHA:2690
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes	OMIM:609227
Focal Facial Dermal Dysplasia 1, Brauer Type	Sparse lateral eyebrow, Distichiasis	OMIM:136500
Dermatoleukodystrophy	Progeroid facial appearance, Premature skin wrinkling	OMIM:221790
Hypohidrotic Ectodermal Dysplasia	Dry skin, Failure to thrive, Breast aplasia, Generalized hypopigmentation of hair, Trichorrhexis ...	ORPHA:238468
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Lymphoma...	OMIM:616871
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:601859
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Pili Torti	Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn...	ORPHA:2889
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Alopecia, Woolly scalp hair, Woolly hair	OMIM:601217
Woolly Hair, Autosomal Recessive 3	Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair	OMIM:616760
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome	Generalized keratosis follicularis, Absent eyebrow, Absent eyelashes	ORPHA:2339
Immunodeficiency 64	Anti-thyroid peroxidase antibody positivity, Abnormal CD4:CD8 ratio, Defective T cell proliferati...	OMIM:618534
Leprosy	Verrucous papule, Skin nodule, Sparse body hair, Penetrating foot ulcers, Alopecia, Paralytic lag...	ORPHA:548
Renal Hypodysplasia/Aplasia 2	Redundant skin	OMIM:615721
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin, Sparse scalp hair, Fragile nails, Thin skin	OMIM:617364
Immunodeficiency 40	Lymphopenia	OMIM:616433
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Histiocytosis, Progressive Mucinous	Neoplasm of the skin, Mucinous histiocytosis	OMIM:142630
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Skin Fragility-Woolly Hair Syndrome	Sparse eyelashes, Acantholysis, Nail dystrophy, Alopecia, Palmoplantar keratosis with erythema an...	OMIM:607655
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem...	OMIM:614172
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Nail dystrophy, Atrophic scars, Aplasia cutis congenita, Ski...	ORPHA:79411
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia	OMIM:183350
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Sparse body hair, Thin skin	ORPHA:1810
Pseudoprogeria Syndrome	Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Sparse and thin eyebrow, Sparse hair	ORPHA:2985
Focal Facial Dermal Dysplasia Type I	Spotty hypopigmentation, Low anterior hairline, Sparse lateral eyebrow, Atrophic scars, Aplasia c...	ORPHA:79133
Ectodermal Dysplasia-Syndactyly Syndrome 1	Small nail, Sparse eyelashes, Sparse and thin eyebrow, Coarse hair, Alopecia, Ectodermal dysplasi...	OMIM:613573
Björnstad Syndrome	Brittle hair, Alopecia	ORPHA:123
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Quinquaud Folliculitis Decalvans	Patchy alopecia, Erythema, Abnormal hair morphology, Scarring alopecia of scalp	ORPHA:346
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Lymphadenitis, Alopecia, R...	ORPHA:90156
Mandibuloacral Dysplasia With Type A Lipodystrophy	Progeroid facial appearance, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Thin skin, ...	ORPHA:90153
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse body hair, Sparse scalp hair, Melanocytic nevus, Periodontitis, Alopecia universalis, Abno...	ORPHA:1008
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmunity, Hepatomegaly, Lymphadenopathy, Recurrent otitis media, Splenomegaly, Recurrent urin...	OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iia	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Petechiae, Neut...	OMIM:603909
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te...	ORPHA:2891
Monilethrix	Fine hair, Brittle hair, Abnormal eyebrow morphology, Follicular hyperkeratosis, Abnormality of t...	ORPHA:573
Schopf-Schulz-Passarge Syndrome	Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Palmoplantar keratoderma,...	OMIM:224750
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Alopecia totalis, Abnormality of the nail	OMIM:302000
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia...	OMIM:607594
Moynahan Syndrome	Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Hypotrichosis 8	Sparse eyelashes, Dry hair, Ridged nail, Comedo, Sparse and thin eyebrow, Coarse hair, Sparse sca...	OMIM:278150
Ectodermal Dysplasia 5, Hair/Nail Type	Absent toenail, Sparse scalp hair, Hair-nail ectodermal dysplasia, Dystrophic fingernails	OMIM:614927
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Redundant skin, Cutis laxa, Increased number of skin folds	ORPHA:436274
Classic Mycosis Fungoides	Hypopigmented skin patches, Eczema, Skin ulcer, Alopecia, Erythema, Abnormal eyelid morphology, S...	ORPHA:2584
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadenopathy, Alo...	ORPHA:499
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Oculotrichodysplasia	Sparse eyelashes, Dry skin, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General...	OMIM:257960
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Hidrotic ...	OMIM:601375
Caspase 8 Deficiency	Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le...	OMIM:607271
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Sensori...	OMIM:610738
Crandall Syndrome	Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:202
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Hypohidrosis, Dry ski...	ORPHA:248
Proliferating Trichilemmal Cyst	Sparse scalp hair, Epidermoid cyst, Skin ulcer	ORPHA:492
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari...	OMIM:619041
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri...	OMIM:117850
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis	ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 2	Small nail, Abnormal hair morphology, Ectropion, Thin nail, Alopecia, Palmoplantar keratoderma, E...	OMIM:242100
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp...	ORPHA:1808
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Porphyria, Congenital Erythropoietic	Hypertrichosis, Cutaneous photosensitivity, Thickened skin, Alopecia, Absent eyebrow, Cholelithia...	OMIM:263700
Lymphoid System Deterioration, Progressive	Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t...	OMIM:247630
Ectodermal Dysplasia/Skin Fragility Syndrome	Dystrophic fingernails, Ectodermal dysplasia, Fragile skin, Scaling skin, Sparse hair, Palmoplant...	OMIM:604536
Pachyonychia Congenita 4	Nail dystrophy, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615728
Fanconi Anemia, Complementation Group G	Myelodysplasia, Neutropenia, Leukemia, Anemia, Thrombocytopenia	OMIM:614082
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Palmoplantar keratoderma, Scar...	OMIM:308800
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Dystrophic toenail, Nevus, Absent toenail, Atrophic scars, Ridged nail, Skin erosion, Aplasia cut...	ORPHA:89838
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Palmoplantar Keratoderma And Woolly Hair	Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Palmoplantar keratoderma, Woolly ha...	OMIM:616099
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Hirsutism, Upslanted palpebral fissure, Long eyelashes, Horizontal eyebrow, Thick eyebrow	OMIM:618608
Vibratory Urticaria	Facial erythema, Urticaria, Flushing	OMIM:125630
Bullous Lichen Planus	Breast aplasia	ORPHA:33408
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Atypical scarring of skin, Lack of sk...	ORPHA:1366
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy	ORPHA:1962
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Pancytopenia, Leukopenia, Partial absence of specific antibody re...	OMIM:618986
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, L...	OMIM:616100
Unclassified Myelodysplastic Syndrome	Leukocytosis, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelodysplasia, Acute...	ORPHA:98827
Bathing Suit Ichthyosis	Erythroderma, Ectropion, Nail dystrophy, Alopecia, Thickened skin, Parakeratosis, Congenital nonb...	ORPHA:100976
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ...	OMIM:619220
Hair Defect With Photosensitivity And Mental Retardation	Sparse eyelashes, Cutaneous photosensitivity, Brittle hair, Coarse hair, Sparse and thin eyebrow,...	OMIM:234030
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617574
Schöpf-Schulz-Passarge Syndrome	Facial telangiectasia, Palmoplantar keratoderma, Alopecia, Ectodermal dysplasia, Aplasia/Hypoplas...	ORPHA:50944
Transient Bullous Dermolysis Of The Newborn	Nail dystrophy, Fragile skin, Atrophic scars, Milia	OMIM:131705
Selective Igm Deficiency	Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly...	ORPHA:331235
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer	OMIM:619096
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Stomatitis, Lymphadenopathy, Lymphadenitis, Chronic oral candidiasis, Decreased lympho...	ORPHA:911
Pili Torti-Onychodysplasia Syndrome	Conjunctival hyperemia, Eczema, Keloids, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes...	ORPHA:2890
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Barber-Say Syndrome	Hypoplastic nipples, Failure to thrive, Generalized hirsutism, Sparse or absent eyelashes, Breast...	ORPHA:1231
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Palmoplantar keratoderma, Urticaria...	ORPHA:2251
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Hyperkeratosis	OMIM:101900
Focal Facial Dermal Dysplasia 3, Setleis Type	Absent lower eyelashes, Low anterior hairline, Epicanthus, Aged leonine appearance, Distichiasis,...	OMIM:227260
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Melanocytic nevus, Abnormal toenail morphology, Aplasia/Hypoplasia o...	ORPHA:1818
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate	Sparse hair, Ectodermal dysplasia	OMIM:129810
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Abnormality of the nail, Sparse hair, Toen...	OMIM:607823
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Decreased specific pneumococcal antibody lev...	OMIM:613496
Reticular Dysgenesis	Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit...	OMIM:267500
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease...	ORPHA:449395
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyelashes, Erythroderma, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyel...	OMIM:602540
Parana Hard Skin Syndrome	Thickened skin, Generalized hirsutism, Hyperkeratosis	ORPHA:2812
Incontinentia Pigmenti	Atrophic, patchy alopecia, Fine hair, Hypoplastic nipples, Sparse hair, Ridged nail, Nail dystrop...	OMIM:308300
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Eczema, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Rheumatoid factor positive, Splenomeg...	OMIM:618935
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Cutis laxa, Redundant skin	ORPHA:91135
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Follicular hyperkeratosis, Leukonychia, Spar...	OMIM:613102
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pne...	OMIM:300400
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Macule, Cutaneous photosensitivity, Abnormal hair morphology,...	ORPHA:317
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer	OMIM:246470
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Ectropion, Severe photosensitivity, Thickened skin, Facial hypertrichosi...	ORPHA:95159
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, White papule, Palmoplantar hyperhidrosis...	ORPHA:498359
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Atrophic scars, Scarring alopecia of scalp, Aplasia cutis conge...	ORPHA:79402
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Highly arched eyebrow, Sparse lateral eyebrow, Epicanthus, Abnormal h...	ORPHA:1807
Immunodeficiency, Common Variable, 10	Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Central adrenal insufficien...	OMIM:615577
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis, Erythema	OMIM:617524
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Fine hair, Sparse eyelashes, Dry skin, Ectodermal dysplasia, Nail dysplasia, Hypohidrosis, Slow-g...	OMIM:129490
Ichthyosis, Congenital, Autosomal Recessive 11	Brittle hair, Curly hair, Pili torti, Hypohidrosis, Hyperkeratosis, Sparse and thin eyebrow, Spar...	OMIM:602400
Sting-Associated Vasculopathy, Infantile-Onset	Rheumatoid factor positive, Cutis marmorata, Periungual erythema, Sparse hair, Nail dystrophy, Er...	OMIM:615934
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Papule, Sk...	ORPHA:79399
Absence Of Fingerprints-Congenital Milia Syndrome	Thin skin, Hypohidrosis, Milia	ORPHA:1658
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Pancytopenia, Leukemia, Bone marrow hypocellularity, Myeloid leukemia, Aplastic anemia	OMIM:614743
Woolly Hair, Autosomal Dominant	Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair	OMIM:194300
Pseudopelade Of Brocq	Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi...	ORPHA:129
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes	ORPHA:2821
Li-Fraumeni Syndrome	Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ...	ORPHA:524
N Syndrome	Leukemia, Neoplasm, Hearing impairment	OMIM:310465
Cole Disease	Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615522
Tooth Agenesis, Selective, 4	Dry skin, Sparse hair, Sparse eyebrow, Short eyelashes	OMIM:150400
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneu...	OMIM:617006
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg...	OMIM:619375
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Alopecia totalis, Palmoplantar keratoderma, Parakeratosis, Posterior bl...	OMIM:300918
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anti-glutamic acid decarboxylase antibody positivity, Eczema, Eosinophilia, Erythroderma, Neutrop...	OMIM:304790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro...	ORPHA:158057
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Nail dystrophy, Alopecia, Palmoplantar keratoderma	OMIM:618373
Deafness-Craniofacial Syndrome	Alopecia	OMIM:125230
Keratoderma Hereditarium Mutilans With Ichthyosis	Nail dystrophy, Palmoplantar keratoderma, Alopecia, Generalized ichthyosis, Parakeratosis, Hyperg...	ORPHA:79395
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat...	ORPHA:2585
Clouston Syndrome	Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr...	OMIM:129500
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Uncombable Hair Syndrome 3	Curly hair, Pili canaliculi, Uncombable hair	OMIM:617252
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Warfarin-induced skin necrosis, Thin skin, Aplasia/Hypoplasia of the skin	ORPHA:745
Cutis Laxa, Autosomal Dominant 1	Progeroid facial appearance, Prematurely aged appearance, Redundant skin	OMIM:123700
Trichomegaly	Long eyelashes	OMIM:190330
Distichiasis	Distichiasis	OMIM:126300
Tristichiasis	Three rows of eyelashes	OMIM:190800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi...	ORPHA:86841
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Petechiae, Striae distensae, Thin skin, Atypical scarring of skin, Bruising susceptibility	OMIM:225310
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Progeroid Syndrome, Petty Type	Long eyelashes in irregular rows, Cutis laxa, Abnormal hair morphology, Brittle hair, Reduced sub...	ORPHA:2963
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair, Follicular hyperkeratosis, Congenital nonbullous ichthyosiform ...	OMIM:618546
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Annular cutaneous lesion, Generalized abnormality of skin, Palmoplantar hy...	ORPHA:737
Onychotrichodysplasia And Neutropenia	Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Chronic irritative conjunctivitis, Curl...	OMIM:258360
Nut Midline Carcinoma	Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H...	ORPHA:231401
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating follicle stimulating hormone level, Sparse pubic hair, Eunuchoid habitus, Br...	ORPHA:3044
Bazex-Dupré-Christol Syndrome	Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Subcutaneous nodule, Pili torti, Spar...	ORPHA:113
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Nail dystrophy, Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congeni...	OMIM:601952
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Telangiectasia, Alopecia	OMIM:614564
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Autoimmune Hepatitis	Inflammation of the large intestine, Splenomegaly, Diffuse hepatic steatosis, Jaundice, Cirrhosis...	ORPHA:2137
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Congenital ichthyosiform erythroderma, Hyperkeratosis	OMIM:270220
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Nail dystrophy, Dermal atrophy, Papule, Abnormal toenail morphology, Milia, Hyper...	ORPHA:89843
Epidermolysis Bullosa Dystrophica, Pretibial	Nail dystrophy, Hyperkeratosis	OMIM:131850
Adult Syndrome	Fine hair, Hypoplastic nipples, Fingernail dysplasia, Alopecia, Sparse scalp hair, Thin skin, Abn...	ORPHA:978
Lichen Planopilaris	Hypopigmented skin patches, Onycholysis, Hepatitis, Alopecia, Dermal atrophy, Papule, Pterygium, ...	ORPHA:525
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Neutropenia, Psoriasiform lesion, Increased circulating IgA level, Lymphadenopathy,...	ORPHA:169154
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin	ORPHA:35664
Hidrotic Ectodermal Dysplasia, Halal Type	Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Follicular hyperkeratosis, Nail...	ORPHA:1809
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair	Dry hair, Sparse hair, Coarse hair, Onychogryposis of toenails, Plantar hyperkeratosis	OMIM:164680
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron...	OMIM:618982
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Palmoplanta...	OMIM:612843
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Thin skin, Subcutaneous hemorrhage, Purpura, Aplasia/Hypoplasia of the skin, Skin ulcer	ORPHA:743
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Immunodeficiency 27A	Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Pneumonia, Lymphadenopathy, Salmone...	OMIM:209950
Rombo Syndrome	Facial telangiectasia, Abnormal eyelash morphology, Abnormal eyebrow morphology	OMIM:180730
Li-Fraumeni Syndrome	Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma...	OMIM:151623
Prolidase Deficiency	Hirsutism, Cutaneous photosensitivity, Low anterior hairline, Erythema, Palmoplantar keratoderma,...	ORPHA:742
Ectodermal Dysplasia-Syndactyly Syndrome 2	Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma, Ectodermal dysplasia	OMIM:613576
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly	OMIM:606445
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin, Cutis laxa	OMIM:105250
Microphthalmia, Syndromic 8	Cryptorchidism, Premature skin wrinkling, Blepharophimosis, Short palpebral fissure	OMIM:601349
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Eczema, Excessive wrinkled skin, Curly eyelashes, Alopecia, Abnormal hair ...	ORPHA:3051
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr...	OMIM:262000
Porokeratosis Of Mibelli	Cutaneous photosensitivity, Aplasia/Hypoplasia of the skin	ORPHA:735
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Sparse lateral eyebrow, Erythematous papule, Acne, Dermal atroph...	ORPHA:3406
Ichthyosis, Lamellar, Autosomal Dominant	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis	OMIM:146750
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Papule, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer	ORPHA:2028
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Tubulointerstitial nephritis, ...	ORPHA:37042
Lamellar Ichthyosis	Erythroderma, Ectropion, Chronic otitis media, Lack of skin elasticity, Abnormality of the nail, ...	ORPHA:313
Adult Syndrome	Hypoplastic nipples, Alopecia of scalp, Cutaneous photosensitivity, Sparse axillary hair, Ectoder...	OMIM:103285
Alpha-Heavy Chain Disease	Hepatomegaly, Lymphadenopathy, Alopecia, Anemia, Splenomegaly, Dysgammaglobulinemia, Premature ov...	ORPHA:100025
Oligodontia-Colorectal Cancer Syndrome	Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Sparse body hair, Short eyelashes	OMIM:608615
Papular Xanthoma	Histiocytosis	ORPHA:158008
Dyskeratosis Congenita, Autosomal Recessive 6	Nail dystrophy, Alopecia, Sparse hair	OMIM:616353
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy	OMIM:136300
Microcephalic Primordial Dwarfism, Montreal Type	Shagreen patch, Alopecia of scalp, Ptosis, Abnormal hair quantity, Prematurely aged appearance, H...	ORPHA:2617
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Thin skin, Skin dimple	ORPHA:261304
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Ectropion, Nail dystrophy, Alopecia, Parakeratosis, Nail dysplasia, Sparse hair, Pa...	OMIM:242300
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ...	OMIM:247800
Hypotrichosis 12	Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars...	OMIM:615885
Limb-Mammary Syndrome	Psoriasiform dermatitis, Dry skin, Hypoplastic nipples, Alopecia, Sparse eyebrow, Aplasia of the ...	ORPHA:69085
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Abnormal serum interl...	ORPHA:319552
Diarrhea 2, With Microvillus Atrophy	Abnormal intestine morphology, Villous atrophy	OMIM:251850
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Olmsted Syndrome 1	Subungual hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Parakeratosis, Nail dysplasia...	OMIM:614594
Autoimmune Lymphoproliferative Syndrome	Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N...	ORPHA:3261
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Ehlers-Danlos Syndrome, Beasley-Cohen Type	Cigarette-paper scars, Narrow palpebral fissure, Excessive skin wrinkling on dorsum of hands and ...	OMIM:608763
Hypertrichosis Cubiti	Ptosis, Downslanted palpebral fissures, Abnormal eyelid morphology, Abnormal nasolacrimal system ...	ORPHA:2220
Leopard Syndrome 3	Epidermal hyperkeratosis, Palpebral thickening, Webbed neck, Downslanted palpebral fissures, Curl...	OMIM:613707
Trichoodontoonychial Dysplasia With Bone Deficiency	Nail dystrophy, Ectodermal dysplasia, Nail dysplasia, Sparse hair, Supernumerary nipple	OMIM:275450
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Breast aplasia	OMIM:612242
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Hypertrichosis, Cutis laxa, Hyperkeratosis	OMIM:612379
Olmsted Syndrome 2	Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Woolly hair, Hyperkeratosis, Al...	OMIM:619208
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec...	OMIM:615513
Rosselli-Gulienetti Syndrome	Progressive hypotrichosis, Sparse eyelashes, Nail dysplasia, Hypohidrosis, Sparse and thin eyebro...	OMIM:225000
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair	Sparse eyelashes, Sparse eyebrow, Downslanted palpebral fissures, Epicanthus, Hypoplastic toenail...	OMIM:616901
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Ectropion, Severe photosensitivity, Thickened skin, Facial hypertrichosi...	ORPHA:79277
Lipodystrophy, Partial, Acquired, Susceptibility To	Hirsutism, Nephrotic syndrome, Hematuria, Polycystic ovaries, Decreased serum complement C3, Memb...	OMIM:608709
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased...	OMIM:616452
Odontoonychodermal Dysplasia	Fine hair, Anonychia, Plantar hyperkeratosis, Dry hair, Dystrophic fingernails, Dystrophic toenai...	OMIM:257980
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Skin nodule, Abnormality of the sublingual glands, Nodular changes affec...	ORPHA:79493
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ...	OMIM:601399
Coffin-Siris Syndrome 8	Eczema, Ptosis, Long eyelashes, Thick eyebrow, Sparse scalp hair	OMIM:618362
Hyper-Igd Syndrome	Leukocytosis, Increased circulating IgA level, Lymphadenopathy, Lymphadenitis, Chronic oral candi...	OMIM:260920
Alazami-Yuan Syndrome	Highly arched eyebrow, Hirsutism, Low anterior hairline, Long eyelashes, Thick eyebrow, Cryptorch...	OMIM:617126
Cernunnos-Xlf Deficiency	B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T...	ORPHA:169079
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Ectodermal Dysplasia 13, Hair/Tooth Type	Sparse eyelashes, Thin eyebrow, Low anterior hairline	OMIM:617392
Keratoderma Hereditarium Mutilans	Alopecia, Abnormal toenail morphology, Papule, Abnormality of the nail, Honeycomb palmoplantar hy...	ORPHA:494
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin...	OMIM:614700
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Cutaneous photosensitivity, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, C...	ORPHA:312
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair	Sparse hair	OMIM:272980
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer	ORPHA:2337
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Hypoplastic toenails, Absent thumbnail, Absent fifth fingernail, Absent toenail, Aplasia/Hypoplas...	ORPHA:79499
Sézary Syndrome	Hepatomegaly, Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Nail dystrophy, Alope...	ORPHA:3162
Chilblain Lupus 1	Skin ulcer, Abnormality of the nail	OMIM:610448
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyelashes, Cutis laxa, Progeroid facial appearance, Atrophic scars, Sparse scalp hair, Thi...	ORPHA:75496
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency, Thick eyebrow	ORPHA:529965
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin	OMIM:301021
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse eyelashes, Dry skin, Hypohidrosis, Slow-growing hair, Blepharitis, Sparse body hair	OMIM:618535
Ectodermal Dysplasia With Adrenal Cyst	Nail dysplasia, Breast hypoplasia, Hypoplastic nipples, Ectodermal dysplasia	OMIM:129550
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Oliver-Mcfarlane Syndrome	Alopecia, Long eyelashes, Cryptorchidism, Decreased response to growth hormone stimulation test, ...	OMIM:275400
Lymphatic Filariasis	Lymphangiectasis, Vaginal hydrocele, Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Abnormal...	ORPHA:2035
Trichotillomania	Alopecia	OMIM:613229
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me...	OMIM:618944
Woolly Hair	Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g...	ORPHA:170
C3 Glomerulopathy	Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ...	ORPHA:329918
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Fine hair, Allergic rhinitis, Alopecia of scalp, Slow-growing scalp hair, Para...	ORPHA:90368
Chilblain Lupus	Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant...	OMIM:618394
Epidermolysis Bullosa Dystrophica, Autosomal Dominant	Nail dystrophy, Nail dysplasia, Atrophic scars, Milia	OMIM:131750
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis	OMIM:615598
Localized Junctional Epidermolysis Bullosa	Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a...	ORPHA:251393
Idiopathic Non-Lupus Full-House Nephropathy	Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme...	ORPHA:567544
Mental Retardation, Fra12A Type	Hyperkeratosis	OMIM:136630
Growth Factors, Combined Defect Of	Reduced subcutaneous adipose tissue, Plantar hyperkeratosis, Thin skin, Dermal atrophy	OMIM:233805
Ehlers-Danlos Syndrome, Classic Type, 2	Soft, doughy skin, Fragile skin, Hyperextensible skin, Soft skin, Bruising susceptibility	OMIM:130010
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Cholangitis, Sparse eyelashes, Alopecia, Parakeratosis, Thick hair, Orthokeratosis, Ichthyosis, D...	OMIM:607626
Diarrhea 9	Villous atrophy	OMIM:618168
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Orthokeratotic hyperkeratosis, Onycholysis, Yellow nails, Nail dystrophy, Palmoplantar keratoderm...	OMIM:148700
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Melanoc...	ORPHA:1882
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant	Comedo, Sparse scalp hair, Papule, Palmar pits	OMIM:605827
Keratosis Pilaris Atrophicans	Comedo, Erythema, Sparse eyebrow, Absent eyelashes, Papule	OMIM:604093
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Papule, Cutaneous photosensitivity, Multiple cafe-au-lait spots	ORPHA:1336
Complement Component 4A Deficiency	Reduced hemolytic complement activity, Cutaneous photosensitivity, Decreased serum complement C4,...	OMIM:614380
Immunodeficiency, Common Variable, 2	Conjunctivitis, Autoimmunity, Hepatomegaly, Impaired T cell function, Decreased circulating IgA l...	OMIM:240500
Immunodeficiency 48	Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
C1Q Deficiency	Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer...	OMIM:613652
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ...	OMIM:617388
Ichthyosis, Congenital, Autosomal Recessive 3	Ectropion, Palmoplantar keratoderma, Erythema, Congenital nonbullous ichthyosiform erythroderma, ...	OMIM:606545
Immunodeficiency 36	Chronic lymphatic leukemia, Decreased circulating antibody level, Splenomegaly, B-cell lymphoma, ...	OMIM:616005
Epidermolysis Bullosa Dystrophica Neurotrophica	Nail dystrophy, Nail dysplasia, Diffuse slow skin atrophy	OMIM:226500
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Ectodermal dysplasia, Abnormality of h...	OMIM:225060
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin...	OMIM:300861
Hydatidiform Mole, Recurrent, 4	Recurrent spontaneous abortion, Female infertility	OMIM:618432
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, Lymphadenopathy, Hepatosplenomegaly, Hemolytic anemia, Enlarged tonsils, Autoimmune hemol...	OMIM:606367
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Sparse scalp hair, Sparse and thin eyebrow, Sparse eyelashes, Ectodermal dysplasia	OMIM:225280
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Sparse hair, Thick eyebrow	OMIM:606242
Laryngoonychocutaneous Syndrome	Skin ulcer, Recurrent loss of toenails and fingernails	OMIM:245660
Lymphedema, Primary, With Myelodysplasia	Leukemia, Myelodysplasia, Pancytopenia	OMIM:614038
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Choroidal Atrophy-Alopecia Syndrome	Fine hair, Abnormal toenail morphology, Ungual fibroma, Sparse or absent eyelashes, Abnormal fing...	ORPHA:1433
Ichthyosis, Congenital, Autosomal Recessive 6	Dry skin, Erythroderma, Ectropion, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous...	OMIM:612281
Diarrhea 12, With Microvillus Atrophy	Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules	OMIM:619445
Colonic Varices Without Portal Hypertension	Intestinal bleeding, Colonic varices	OMIM:120440
Rapp-Hodgkin Syndrome	Anhidrotic ectodermal dysplasia, Fine hair, Small nail, Decreased number of sweat glands, Thin sk...	OMIM:129400
De Barsy Syndrome	Cutis laxa, Excessive wrinkled skin, Failure to thrive, Progeroid facial appearance, Prominent ve...	ORPHA:2962
Trichodental Dysplasia	Fine hair, Brittle hair, Sparse hair, Slow-growing hair	OMIM:601453
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ...	OMIM:613493
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Coarse hair, Hidrotic ectodermal dysplasia, Hyperkeratosis, Sparse hair	ORPHA:1883
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o...	OMIM:613494
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer...	OMIM:613779
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD69 upregulation upon TCR activation, Hodgkin lymphoma, Lymphoproliferative disorder, ...	OMIM:300853
Congenital Disorder Of Glycosylation, Type Im	Sparse and thin eyebrow, Sparse eyelashes, Ichthyosis	OMIM:610768
Immunodeficiency, Common Variable, 12, With Autoimmunity	Bronchiectasis, Pyoderma gangrenosum, Decreased circulating antibody level, Alopecia, Recurrent s...	OMIM:616576
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Macule, Cutaneous photosensitivity, Abnormal eyebrow morphology, Hypo...	ORPHA:2885
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Absent eyelashes	OMIM:182815
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet	Sparse eyelashes, Alopecia, Telecanthus, Ectodermal dysplasia, Abnormality of the nail, Sparse an...	OMIM:129540
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Progeroid facial appearance, Nail dystrophy, Alopecia, Thin skin, Derma...	ORPHA:90154
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Cutis marmorata, Hyperextensible skin	OMIM:615937
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
X-Linked Ehlers-Danlos Syndrome	Bruising susceptibility, Thin skin	ORPHA:75497
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ...	ORPHA:183675
Wt Limb-Blood Syndrome	Hypoplastic anemia, Leukemia, Sensorineural hearing impairment, Pancytopenia, Thrombocytopenia	OMIM:194350
Oocyte Maturation Defect 10	Female infertility, Spontaneous abortion	OMIM:619176
Primary Erythromelalgia	Leukemia	ORPHA:90026
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
19Q13.11 Microdeletion Syndrome	Fine hair, Sparse lateral eyebrow, Aplasia cutis congenita, Thin skin, Nail dysplasia, Sparse or ...	ORPHA:217346
Ehlers-Danlos Syndrome, Periodontal Type, 1	Palmoplantar cutis laxa, Atrophic scars, Thin skin, Poor wound healing, Bruising susceptibility	OMIM:130080
Huriez Syndrome	Small nail, Lack of skin elasticity, Abnormality of the nail, Aplasia/Hypoplasia of the skin, Dry...	ORPHA:384
Xq27.3Q28 Duplication Syndrome	Gynecomastia, Failure to thrive, Truncal obesity, Premature ovarian insufficiency, Cryptorchidism...	ORPHA:261483
Pachyonychia Congenita 2	Folliculitis, Dry hair, Epidermoid cyst, Subungual hyperkeratosis, Nail dystrophy, Sparse and thi...	OMIM:167210
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Nail dystrophy, Palmoplantar keratoderma, Erythema, Parakeratosis, Woolly hair, Fragile nails, Ic...	OMIM:615821
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Jaundice, Absent tonsils, Lymph node hypoplasia, Re...	ORPHA:276
Acrokeratosis Verruciformis Of Hopf	Nail dystrophy, Hypergranulosis, Leukonychia, Hyperkeratosis, Punctate palmoplantar hyperkeratosi...	ORPHA:79151
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome...	OMIM:233710
Omenn Syndrome	Autoimmunity, Leukocytosis, Eosinophilia, Erythroderma, Hepatomegaly, Pneumonia, Nephrotic syndro...	ORPHA:39041
Transcobalamin Deficiency	Neutropenia, Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG l...	ORPHA:859
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa	OMIM:614100
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased...	OMIM:614493
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis	OMIM:617525
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia	OMIM:200900
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Boutonneuse Fever	Leukopenia, Petechiae, Lymphadenopathy, Elevated hepatic transaminase, Increased circulating IgG ...	ORPHA:83313
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi...	OMIM:617765
Immunodeficiency 68	B lymphocytopenia, Lymphadenitis, Septic arthritis, Recurrent skin infections, T lymphocytopenia,...	OMIM:612260
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy	OMIM:613217
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair	OMIM:211390
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent hair, Hypohidrotic ectodermal dysplasia, Dry skin, Absent nipple, Sparse hair	OMIM:614940
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Reduced subcutaneous adipose tissue, Melanocytic nevus	OMIM:612079
Syndromic X-Linked Intellectual Disability 7	Obesity, Cryptorchidism, Sparse body hair	ORPHA:85274
Ulnar-Mammary Syndrome	Hypoplastic nipples, Obesity, Hypoplastic toenails, Breast aplasia, Abnormal fingernail morpholog...	ORPHA:3138
Granulomatous Disease, Chronic, X-Linked	Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Eczematoid dermatitis, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Discoid lupus rash, Splenome...	OMIM:233690
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul...	OMIM:606843
Noonan Syndrome 8	Eczema, Palmoplantar cutis laxa, Ptosis, Webbed neck, Epicanthus, Downslanted palpebral fissures,...	OMIM:615355
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Absent tonsils, Sinusitis, Inflammator...	ORPHA:277
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Failure to thrive, Sparse lateral eyebrow, Webbed neck, Coarse hair, Thin ...	OMIM:617506
Acquired Partial Lipodystrophy	Autoimmunity, Progeroid facial appearance, Hepatic steatosis, Microscopic hematuria, Lymphocytosi...	ORPHA:79087
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p...	OMIM:312863
Blepharonasofacial Malformation Syndrome	Sparse lateral eyebrow, Thickened skin, Telecanthus, Epicanthus, Redundant skin, Low posterior ha...	ORPHA:1252
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Granddad Syndrome	Progeroid facial appearance, Abnormal hair morphology, Reduced subcutaneous adipose tissue	OMIM:138920
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Pulmonary lymphangiectasia, Epidermal hyperkeratosis, Sparse eyelashes, Telangiectasia of extenso...	OMIM:137940
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Redundant skin	ORPHA:1779
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ...	OMIM:608106
Immunodeficiency 31C	Abnormal intestine morphology, Villous atrophy, Lymphopenia, Autoimmune hemolytic anemia	OMIM:614162
Hutchinson-Gilford Progeria Syndrome	Dystrophic fingernails, Dystrophic toenail, Alopecia totalis, Absent eyebrow, Dermal atrophy, Pro...	ORPHA:740
Ataxia-Telangiectasia	Elevated hepatic transaminase, Decreased circulating antibody level, Polycystic ovaries, Telangie...	ORPHA:100
Scalp-Ear-Nipple Syndrome	Fine hair, Abnormal hair morphology, Aplasia/Hypoplasia of the nipples, Nail dysplasia, Abnormali...	OMIM:181270
Lichen Planus Pemphigoides	Conjunctivitis, Abnormality of the nail, Hyperkeratosis, Blepharitis, Skin vesicle	ORPHA:254478
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance	Prematurely aged appearance, Coarse hair, Reduced subcutaneous adipose tissue	OMIM:248010
Zimmermann-Laband Syndrome 3	Small nail, Hypertrichosis, Low anterior hairline, Absent toenail, Facial hypertrichosis, Long ey...	OMIM:618658
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, Parotitis, C...	ORPHA:449427
Pseudo-Torch Syndrome 3	Leukocytosis, Lymphadenitis, Anemia, Acute kidney injury, Congenital thrombocytopenia, Proteinuria	OMIM:618886
Pachyonychia Congenita	Epidermoid cyst, Onychogryposis of fingernail, Fingernail dysplasia, Linear arrays of macular hyp...	ORPHA:2309
Arthrogryposis And Ectodermal Dysplasia	Entropion, Narrow palpebral fissure, Trichiasis, Ectodermal dysplasia, Absent eyebrow, Atypical s...	OMIM:601701
Ichthyosis With Confetti	Hypertrichosis, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:609165
Autosomal Dominant Severe Congenital Neutropenia

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