Gene: Hr MGI:96223

Gene Summary

Name:

lysine demethylase and nuclear receptor corepressor

Synonyms:

rh-bmh, rh, N, ba, bldy

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating HDL cholesterol level	Hr^em1(IMPC)H	HOM	Early adult	1.19×10^-10
decreased circulating alkaline phosphatase level	Hr^em1(IMPC)H	HOM	Early adult	7.61×10^-11
decreased circulating amylase level	Hr^em1(IMPC)H	HOM	Early adult	3.97×10^-08
absent vibrissae	Hr^em1(IMPC)H	HOM	Early adult	1.20×10^-18
decreased circulating cholesterol level	Hr^em1(IMPC)H	HOM	Early adult	4.34×10^-08
abnormal coat/ hair morphology	Hr^em1(IMPC)H	HOM	Early adult	3.63×10^-21
abnormal vibrissa morphology	Hr^em1(IMPC)H	HOM	Early adult	7.14×10^-17
decreased lymphocyte cell number	Hr^em1(IMPC)H	HOM	Early adult	2.11×10^-12
increased neutrophil cell number	Hr^em1(IMPC)H	HOM	Early adult	1.33×10^-11

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lacZ Expression

Expression data not available

Associated Images

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

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 (2222 diseases)

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

Disease	Matching phenotypes	Source
Alopecia Universalis Congenita	Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair	OMIM:203655
Alopecia Universalis	Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia	ORPHA:701
Atrichia With Papular Lesions	Generalized papillary lesions, Sparse hair	OMIM:209500
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye...	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 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia Areata 2	Alopecia totalis, Alopecia universalis, Patchy alopecia, 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, Congenital	Sparse hair, Alopecia	OMIM:300042
Alopecia Universalis Congenita	Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair	OMIM:203655
Pili Gemini	Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1...	ORPHA:79492
Hypotrichosis 5	Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair	OMIM:612841
Alopecia Universalis	Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia	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
Hypotrichosis Simplex	Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes	ORPHA:55654
Graying Of Hair, Precocious	Premature graying of hair	OMIM:139100
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Hair-nail ectodermal dysplasia, Dystrophic toenail, Thin toenail	OMIM:614928
Hypotrichosis 4	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair	OMIM:146550
Alopecia Areata 1	Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits	OMIM:104000
Hypotrichosis 11	Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,...	OMIM:615059
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Atrichia With Papular Lesions	Generalized papillary lesions, Sparse hair	OMIM:209500
Loose Anagen Hair Syndrome	Loose anagen hair, Fair hair, Sparse hair	OMIM:600628
Cerebellar Ataxia And Ectodermal Dysplasia	Alopecia, Sparse hair, Ectodermal dysplasia	OMIM:212835
Syringocystadenoma Papilliferum	Sparse scalp hair, Nevus sebaceous, Papule, Subcutaneous nodule	ORPHA:840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Polyclonal elevation of IgM, Lymphoma, Impaired lymphocyte transformation with phytohemagglutinin...	OMIM:153600
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality	Alopecia universalis, Congenital alopecia totalis	OMIM:104130
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair	ORPHA:505
Dermoodontodysplasia	Nail dysplasia, Dry skin, Thin skin, Trichodysplasia, Ectodermal dysplasia	OMIM:125640
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 14	Sparse body hair, Sparse hair	OMIM:618275
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Nail pits, Congenital alopecia totalis, Ridged nail	ORPHA:169095
Hypotrichosis 1	Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub...	OMIM:605389
Odonto-Onycho Dysplasia-Alopecia Syndrome	Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai...	ORPHA:2722
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Parc Syndrome	Absent eyebrow, Absent eyelashes, Alopecia	OMIM:600331
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h...	ORPHA:3361
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Coarse hair, Sparse or absent eye...	ORPHA:444
Dermoodontodysplasia	Sparse scalp hair, Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Hypohidrosis, Dry s...	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	Partial duplication of eyebrows, Hyperextensible skin of face, Periorbital wrinkles, Hyperextensi...	OMIM:227210
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia, Sparse body hair, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Dyst...	OMIM:617294
Hypotrichosis 10	Sparse body hair, Sparse eyebrow, Sparse eyelashes	OMIM:614238
Pseudopili Annulati	Abnormality of hair texture, Abnormality of the scalp hair	OMIM:613241
Ectodermal Dysplasia 4, Hair/Nail Type	Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con...	OMIM:602032
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Uncombable Hair Syndrome	Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair	ORPHA:1410
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
L-Ferritin Deficiency	Alopecia	OMIM:615604
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis	ORPHA:488191
Pili Bifurcati	Abnormality of hair texture, Abnormal hair morphology	ORPHA:720
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Absent isohemagglutinin level, Alopecia, Increased proportion autoreactive unrespon...	OMIM:615559
Witkop Syndrome	Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail	OMIM:189500
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation	OMIM:131440
Oocyte Maturation Defect 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Ectodermal Dysplasia 9, Hair/Nail Type	Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nai...	OMIM:614931
Glioma Susceptibility 9	Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma	OMIM:616568
Immunodeficiency 24	Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ...	OMIM:615897
Immunodeficiency 18	Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Oocyte Maturation Defect 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte Maturation Defect 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Nail dystrophy, Alopecia	OMIM:616487
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Nail dysplasia, Hypermelanotic macule, Palmar hyperkeratosis, Alopecia, Plantar hyperkeratosis, C...	ORPHA:79397
Hidrotic Ectodermal Dysplasia	Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ...	ORPHA:189
Angioma Serpiginosum, X-Linked	Fine hair, Hyperkeratosis, Sparse hair, Nail dystrophy	OMIM:300652
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy	Absent hair, Absent eyebrow, Absent eyelashes, Generalized keratosis follicularis	OMIM:308830
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 dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy	OMIM:158000
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Excessive wrinkled skin, Aplasia/Hypopla...	ORPHA:2500
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type	Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hair-nail ectod...	OMIM:602401
Premature Ovarian Failure 19	Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency	OMIM:619245
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, ...	OMIM:614470
Erythroleukemia, Familial, Susceptibility To	Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acu...	OMIM:133180
Fibrinolytic Defect	Hyperextensible skin, Spontaneous hematomas	OMIM:134900
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Cutis laxa, Absent pubic hair, Dry skin, Generalized...	ORPHA:2269
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Macular telangiectasia, Anonychia, Follicular hyperkeratosis, Hyperkeratos...	ORPHA:69125
Elastoderma	Cutis laxa, Premature skin wrinkling	ORPHA:228240
Aredyld	Ectodermal dysplasia, Generalized hypotrichosis	OMIM:207780
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Nail pits, Ridged nail, Nail dystrophy, Alopecia	OMIM:601705
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Fragile skin, Palmoplantar hyperkeratosis, Erythematous plaque, Milia, Thin skin, Dystr...	ORPHA:158673
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest...	OMIM:620058
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ...	ORPHA:331206
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Sparse hair, Absent eyebrow, Hypothyroidism, Hyperkeratosis, Absent eyela...	OMIM:618625
Oocyte Maturation Defect 12	Female infertility	OMIM:619697
Tooth Agenesis, Selective, 8	Dry skin, Sparse hair, Sparse eyebrow	OMIM:617073
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dysplasia, Dry skin, Palmoplantar hyperkeratosis, Alopecia totalis, Facial erythema, Hyperke...	OMIM:212360
Atopic Keratoconjunctivitis	Keratitis, Blepharitis, Dry skin, Chemosis, Loss of eyelashes, Keratoconjunctivitis sicca, Abnorm...	ORPHA:163934
Palmoplantar Keratoderma And Congenital Alopecia 1	Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Palmoplantar er...	OMIM:104100
Ulerythema Ophryogenesis	Dry skin, Follicular hyperkeratosis, Facial erythema, Contact dermatitis, Erythematous papule, Ac...	ORPHA:3406
Tooth Agenesis, Selective, 4	Sparse scalp hair, Palmoplantar hyperhidrosis, Sparse eyebrow, Palmar hyperkeratosis, Short eyela...	OMIM:150400
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism	Woolly scalp hair, Woolly hair, Alopecia	OMIM:601217
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis, Subcutaneous nodule	ORPHA:2297
Hypotrichosis 6	Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Erythema, Follicular hyp...	OMIM:607903
Neutropenia-Monocytopenia-Deafness Syndrome	Sensorineural hearing impairment, Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Pili torti, Sparse hair, Reduced terminal:vellus ratio	OMIM:601553
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocellularity...	OMIM:616871
Dermatoleukodystrophy	Progeroid facial appearance, Premature skin wrinkling	OMIM:221790
Hypohidrotic Ectodermal Dysplasia	Failure to thrive, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodos...	ORPHA:238468
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Autoimmune Lymphoproliferative Syndrome	Urticaria, Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomeg...	OMIM:601859
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Pili Torti	Pili torti, Abnormal eyebrow morphology, Abnormality of hair texture, Brittle hair, Alopecia, Abn...	ORPHA:2889
Leprosy	Absent eyebrow, Verrucous papule, Alopecia, Sparse body hair, Iritis, Paralytic lagophthalmos, Te...	ORPHA:548
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome	Absent eyebrow, Absent eyelashes, Generalized keratosis follicularis	ORPHA:2339
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair	OMIM:616760
Congenital Heart Defects And Ectodermal Dysplasia	Sparse scalp hair, Fragile nails, Dry skin, Thin skin	OMIM:617364
Renal Hypodysplasia/Aplasia 2	Redundant skin	OMIM:615721
Immunodeficiency 40	Lymphopenia	OMIM:616433
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism	OMIM:183350
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Fragile skin, Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Skin erosion, Generalized abnormality of skin, Anonychia, Fr...	ORPHA:79411
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys...	OMIM:614172
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis, Neoplasm of the skin	OMIM:142630
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Sparse hair, Thin skin, Abnormal fingernail morphology	ORPHA:1810
Pseudoprogeria Syndrome	Sparse hair, Absent eyebrow, Sparse eyebrow, Alopecia, Thin skin, Absent eyelashes	ORPHA:2985
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Focal Facial Dermal Dysplasia Type I	Low anterior hairline, Sparse hair, Skin dimple, Distichiasis, Absent eyelashes, Atrophic scars, ...	ORPHA:79133
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Björnstad Syndrome	Brittle hair, Alopecia	ORPHA:123
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Prematurely aged appearance, Progeroid facial appearance, Alopecia, ...	ORPHA:90153
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Alopecia, Lymphadeniti...	ORPHA:90156
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperkeratosis,...	OMIM:602540
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morpho...	ORPHA:1008
Porphyria Cutanea Tarda	Alopecia, Facial hypertrichosis, Fragile skin, Cutaneous photosensitivity, Onycholysis	OMIM:176100
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Pili torti, Abnormality of hair texture, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyel...	ORPHA:2891
Autoimmune Lymphoproliferative Syndrome, Type Iia	Urticaria, Hepatomegaly, Rheumatoid factor positive, Thrombocytopenia, Nephrotic syndrome, Smooth...	OMIM:603909
Oocyte Maturation Defect 10	Female infertility	OMIM:619176
Monilethrix	Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Follicular hyperkeratosi...	ORPHA:573
Skin Fragility-Woolly Hair Syndrome	Woolly hair, Sparse eyebrow, Alopecia, Sparse eyelashes, Palmoplantar erythema, Fragile skin, Pal...	OMIM:607655
Ectodermal Dysplasia/Skin Fragility Syndrome	Ectodermal dysplasia, Sparse hair, Absent eyebrow, Fragile skin, Palmoplantar hyperkeratosis, Sca...	OMIM:604536
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail, Acrocyanosis	OMIM:302000
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Hypotrichosis 8	Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse eyelashes, Sparse axillary hair, S...	OMIM:278150
Ectodermal Dysplasia 5, Hair/Nail Type	Sparse scalp hair, Absent toenail, Hair-nail ectodermal dysplasia, Dystrophic fingernails	OMIM:614927
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Urticaria, Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell recep...	OMIM:618987
Focal Facial Dermal Dysplasia 1, Brauer Type	Distichiasis, Sparse lateral eyebrow	OMIM:136500
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Sensorineural hearing impairment, Conductive hearing impairment, Myelodysplasia, Neutropenia, Acu...	OMIM:610738
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Redundant skin, Increased number of skin folds, Cutis laxa	ORPHA:436274
Moynahan Syndrome	Hyperkeratosis, Sparse hair, Alopecia	ORPHA:2574
Hypotrichosis 7	Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse eyelashes, Sparse axillary hair...	OMIM:604379
Schopf-Schulz-Passarge Syndrome	Ectodermal dysplasia, Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Palmoplantar ke...	OMIM:224750
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Alopecia, Lymphadenopathy, Recur...	ORPHA:499
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Bone marrow hypocel...	OMIM:619041
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Decreased circulating IgG level, Lym...	OMIM:247630
Crandall Syndrome	Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair	ORPHA:202
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type	Sparse scalp hair, Hidrotic ectodermal dysplasia, Fair hair, Absent eyebrow, Sparse axillary hair...	OMIM:601375
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Dry skin, Hypohidrosis, Abnormal fingernail morphology, Fine hair, Abnormal toenail mor...	ORPHA:248
Classic Mycosis Fungoides	Skin rash, Alopecia, Eczema, Erythema, Dry skin, Hyperkeratosis, Skin plaque, Skin ulcer, Abnorma...	ORPHA:2584
Oculotrichodysplasia	Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ...	OMIM:257960
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Porphyria, Congenital Erythropoietic	Cholelithiasis, Hypertrichosis, Absent eyebrow, Alopecia, Scleroderma, Cutaneous photosensitivity...	OMIM:263700
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Brittle hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Hair-nail ectodermal...	OMIM:614929
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Lumbar hypertrichosis, Sacral hypertrichosis, Anterior cervical hypertrichosis, Thoracic hypertri...	OMIM:117850
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony...	ORPHA:1808
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Proliferating Trichilemmal Cyst	Skin ulcer, Epidermoid cyst, Sparse scalp hair	ORPHA:492
Fanconi Anemia, Complementation Group G	Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia	OMIM:614082
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
Oocyte Maturation Defect 1	Female infertility	OMIM:615774
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Immunodeficiency 105	Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, D...	OMIM:619924
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Aplasia cutis congenita on trunk or limbs, Skin erosion, Palmoplantar hyperkeratosis, Abnormal fi...	ORPHA:89838
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratitis, Blepharitis, Ectropion, Folliculitis, Sparse eyebrow, Sparse eyelashes, Dry skin, Foll...	OMIM:308800
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Nail dystrophy	ORPHA:79503
Vibratory Urticaria	Facial erythema, Urticaria, Flushing	OMIM:125630
Bullous Lichen Planus	Breast aplasia	ORPHA:33408
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Alopecia totalis, Palmoplantar keratoder...	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	Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ...	OMIM:618986
Unclassified Myelodysplastic Syndrome	Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute...	ORPHA:98827
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme	OMIM:619096
Transient Bullous Dermolysis Of The Newborn	Fragile skin, Milia, Nail dystrophy, Atrophic scars	OMIM:131705
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Urticaria, Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fing...	ORPHA:2251
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia, Palmoplantar ker...	ORPHA:50944
Barber-Say Syndrome	Failure to thrive, Generalized hirsutism, Aplasia/Hypoplasia of the eyebrow, Redundant skin, Spar...	ORPHA:1231
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse hair, Absent eyebrow, Toenail dysplasia, Alopecia, Thin skin, Absent eyelashes, Abnormalit...	OMIM:607823
Selective Igm Deficiency	Keratitis, Otitis media, Rheumatoid arthritis, Lymphadenitis, Decreased specific antibody respons...	ORPHA:331235
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Ectodermal dysplasia, Absent eyebrow, Brittle hair, Alopecia, Sparse body h...	ORPHA:2890
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Hirsutism, Thick eyebrow, Upslanted palpebral fissure, Horizontal eyebrow, Long eyelashes	OMIM:618608
Ectodermal Dysplasia-Syndactyly Syndrome 1	Pili torti, Hypoplastic toenails, Sparse scalp hair, Ectodermal dysplasia, Patchy alopecia, Spars...	OMIM:613573
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent bacterial skin infections, C...	ORPHA:911
Bathing Suit Ichthyosis	Congenital nonbullous ichthyosiform erythroderma, Ectropion, Sparse hair, Alopecia, Hypohidrosis,...	ORPHA:100976
Acrokeratosis Verruciformis	Hyperkeratosis, Acrokeratosis, Ridged nail	OMIM:101900
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope...	OMIM:267500
Hair Defect With Photosensitivity And Mental Retardation	Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair, Cutaneous photosensitivity	OMIM:234030
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Lymphedema, Primary, With Myelodysplasia	Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio	OMIM:614038
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Decreased specifi...	OMIM:613496
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Abnormal eyelash morphology, Ab...	ORPHA:1818
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Sparse hair, Epicanthus, Distichiasis, Absent lower eyelashes, Aged leonin...	OMIM:227260
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse hair, Sparse eyebrow, Sparse eyelashes, Dry skin, Hypohidrosis, Fine hair, Ridged nail, Sl...	OMIM:129490
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate	Sparse hair, Ectodermal dysplasia	OMIM:129810
Parana Hard Skin Syndrome	Generalized hirsutism, Hyperkeratosis, Thickened skin	ORPHA:2812
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia	OMIM:246470
Igg4-Related Kidney Disease	Abnormal ureter morphology, Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum c...	ORPHA:449395
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, ...	OMIM:616100
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Crohn's disease, Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosple...	OMIM:618935
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent urinary tract infection...	OMIM:618495
Ichthyosis, Congenital, Autosomal Recessive 11	Pili torti, Blepharitis, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Sparse ey...	OMIM:602400
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa	ORPHA:91135
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Skin ...	OMIM:300400
Erythrokeratodermia Variabilis	Macule, Generalized hirsutism, Hypermelanotic macule, Alopecia, Erythema, Dry skin, Patchy palmop...	ORPHA:317
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Eczema, Inflammation of the large intest...	OMIM:615895
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, ...	OMIM:616099
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
Hepatoerythropoietic Porphyria	Severe photosensitivity, Recurrent bacterial skin infections, Ectropion, Skin erosion, Seborrhoei...	ORPHA:95159
Aquagenic Palmoplantar Keratoderma	Palmoplantar hyperhidrosis, White papule, Skin plaque, Palmoplantar keratoderma, Excessive skin w...	ORPHA:498359
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Cutis marmorata, Rheumatoid factor positive, Periungual erythema, Follicular hyperpl...	OMIM:615934
Incontinentia Pigmenti	Nail dysplasia, Sparse hair, Supernumerary nipple, Alopecia, Pallor, Coarse hair, Erythema, Atrop...	OMIM:308300
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha...	OMIM:613102
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Palmar hyperkeratosis, Plantar hyperkeratosis, Papule, Hyperkeratosis, Mil...	ORPHA:79399
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Anonychia, Milia, Nail dystrophy, Atrophic scars, Scarring alopecia of scalp, A...	ORPHA:79402
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Cutis laxa, Excessive wrinkled skin, Prominent superficial veins, Fine hair, Thin sk...	OMIM:614438
Focal Facial Dermal Dysplasia Type Iii	Prematurely aged appearance, Hypopigmented skin patches, Sparse hair, Redundant skin, Abnormal ha...	ORPHA:1807
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi...	OMIM:619375
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia	OMIM:614743
Erythrokeratodermia Variabilis Et Progressiva 2	Palmoplantar keratoderma, Hypertrichosis, Erythema	OMIM:617524
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Systemic lupus erythematosus, Recurrent tonsillitis, Decreased serum compleme...	OMIM:613779
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Thin skin, Hypohidrosis	ORPHA:1658
Woolly Hair, Autosomal Dominant	Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology	OMIM:194300
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes	ORPHA:2821
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Silver-gray hair, White eyebrow, White eyelashes, Lar...	OMIM:214450
N Syndrome	Hearing impairment, Leukemia, Neoplasm	OMIM:310465
Deafness-Craniofacial Syndrome	Alopecia	OMIM:125230
Ichthyosis, Congenital, Autosomal Recessive 2	Congenital nonbullous ichthyosiform erythroderma, Ectropion, Congenital ichthyosiform erythroderm...	OMIM:242100
Cole Disease	Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:615522
Li-Fraumeni Syndrome	Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca...	ORPHA:524
Immunodeficiency, Common Variable, 10	Decreased circulating IgA level, Decreased circulating IgG level, Central adrenal insufficiency, ...	OMIM:615577
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces...	OMIM:617006
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Abnormal...	ORPHA:129
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Alopecia, Anemia, Eczema, Eosinophilia, Glomerulonephritis, Aut...	OMIM:304790
Keratoderma Hereditarium Mutilans With Ichthyosis	Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Alopecia, Palmoplantar hyperker...	ORPHA:79395
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly...	ORPHA:158057
Olmsted Syndrome, X-Linked	Blepharitis, Posterior blepharitis, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Alopec...	OMIM:300918
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Erythroid hypoplasia, Macrocytic anemi...	ORPHA:86841
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Palmoplantar keratoderma, Nail dystrophy, Alopecia	OMIM:618373
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Pili canaliculi	OMIM:617252
Distichiasis	Distichiasis	OMIM:126300
Trichomegaly	Long eyelashes	OMIM:190330
Tristichiasis	Three rows of eyelashes	OMIM:190800
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A...	ORPHA:231401
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Brittle hair, Tiger tail banding, Follicular hy...	OMIM:618546
Clouston Syndrome	Nail dysplasia, Blepharitis, Ectodermal dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse...	OMIM:129500
Porokeratosis Plantaris Palmaris Et Disseminata	Generalized abnormality of skin, Palmoplantar hyperkeratosis, Annular cutaneous lesion, Porokerat...	ORPHA:737
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Generalized hirsutism, Prematurely aged appearance, Thick ey...	ORPHA:2963
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Warfarin-induced skin necrosis, Purpura, Thin skin	ORPHA:745
Granulomatous Slack Skin	Redundant skin, Erythema, Cutis laxa	ORPHA:33111
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla...	ORPHA:3044
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Petechiae, Bruising susceptibility, Striae distensae, Thin skin, Atypical scarring of skin	OMIM:225310
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Onychotrichodysplasia And Neutropenia	Short eyelashes, Trichorrhexis nodosa, Curly eyelashes, Sparse pubic hair, Chronic irritative con...	OMIM:258360
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Nail dysplasia, Absent eyebrow, Supernumerary nipple, Sparse body hair, Abnorm...	ORPHA:1809
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Telangiectasia, Ridged nail, Alopecia	OMIM:614564
Ichthyosis, Congenital, Autosomal Recessive 1	Nail dysplasia, Congenital nonbullous ichthyosiform erythroderma, Ectropion, Sparse hair, Alopeci...	OMIM:242300
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy	OMIM:131850
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Congenital nonbullous ichthyosiform erythroderma, Hyperconvex nail, Linear arrays of macular hype...	OMIM:601952
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel...	OMIM:618982
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:270220
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Autoimmune Hepatitis	Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc...	ORPHA:2137
Adult Syndrome	Absent nipple, Sparse scalp hair, Toenail dysplasia, Alopecia, Fingernail dysplasia, Dry skin, Hy...	ORPHA:978
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin	ORPHA:35664
Lichen Planopilaris	Hypopigmented skin patches, Alopecia, Papule, Abnormal fingernail morphology, Hepatitis, Hyperker...	ORPHA:525
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair	Sparse hair, Coarse hair, Dry hair, Plantar hyperkeratosis, Onychogryposis of toenails	OMIM:164680
Dystrophic Epidermolysis Bullosa Pruriginosa	Subcutaneous nodule, Papule, Hyperkeratosis, Milia, Skin plaque, Nail dystrophy, Atrophic scars, ...	ORPHA:89843
Palmoplantar Keratoderma, Norrbotten Recessive Type	Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections	OMIM:244850
Nicolaides-Baraitser Syndrome	Sparse hair, Short palpebral fissure, Alopecia, Cryptorchidism, Excessive wrinkled skin, Eczema, ...	ORPHA:3051
Prolidase Deficiency	Hirsutism, Generalized hirsutism, Low anterior hairline, Erythema, Dry skin, Papule, Abnormal fin...	ORPHA:742
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh...	OMIM:209950
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Nail dysplasia, Blepharitis, Keratitis, Folliculitis, Sparse eyebrow, Sparse eyelashes, Alopecia,...	OMIM:612843
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Subcutaneous hemorrhage, Aplasia/Hypoplasia of the skin, Purpura, Thin skin, Skin ulcer	ORPHA:743
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Ectodermal dysplasia, Sparse hair, Follicular hyperkeratosis	OMIM:613576
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer...	OMIM:151623
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Pili torti, Sparse hair, Sparse eyebrow, Coarse hair, Sparse or absent eyelash...	ORPHA:113
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Bjornstad Syndrome	Pili torti, Hair shafts flattened at irregular intervals and twisted through 180 degrees about th...	OMIM:262000
Lamellar Ichthyosis	Ectropion, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Lack of skin elasticity, Dry skin, Chr...	ORPHA:313
Rombo Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Facial telangiectasia	OMIM:180730
Microphthalmia, Syndromic 8	Cryptorchidism, Blepharophimosis, Short palpebral fissure, Premature skin wrinkling	OMIM:601349
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Urticaria, Gastritis, Alopecia, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver c...	ORPHA:37042
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Ichthyosis, Lamellar, Autosomal Dominant	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis	OMIM:146750
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity	ORPHA:735
Adult Syndrome	Absent nipple, Sparse scalp hair, Ectodermal dysplasia, Fair hair, Wide intermamillary distance, ...	OMIM:103285
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Dry skin, Cutis laxa	OMIM:105250
Juvenile Hyaline Fibromatosis	Papule, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Skin ulcer, Abnormal hair morphology	ORPHA:2028
Papular Xanthoma	Histiocytosis	ORPHA:158008
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Hydrocele testis, Reduced subcutaneous adipose tissue, Absent eyebrow, Facial ...	OMIM:137940
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Abnormal intestine morphology	OMIM:251850
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Flynn-Aird Syndrome	Alopecia of scalp, Hyperkeratosis, Dermal atrophy, Alopecia	OMIM:136300
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Skin dimple, Thin skin	ORPHA:261304
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ...	OMIM:247800
Immunodeficiency 102	Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,...	OMIM:301082
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:100025
Microcephalic Primordial Dwarfism, Montreal Type	Prematurely aged appearance, Abnormal hair quantity, Cryptorchidism, Alopecia of scalp, Dry skin,...	ORPHA:2617
Hypotrichosis 12	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin...	OMIM:615885
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Vasculitis in the skin, Lymphadenitis, Abnormal circulating interleukin concentration, Pneumonia,...	ORPHA:319552
Limb-Mammary Syndrome	Absent nipple, Nail dysplasia, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Dry skin, H...	ORPHA:69085
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Increased circulating...	OMIM:618048
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Trichoodontoonychial Dysplasia With Bone Deficiency	Nail dysplasia, Sparse hair, Supernumerary nipple, Nail dystrophy, Ectodermal dysplasia	OMIM:275450
Asherman Syndrome	Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr...	ORPHA:137686
Autoimmune Lymphoproliferative Syndrome	Urticaria, Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Rheumatoid facto...	ORPHA:3261
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Olmsted Syndrome 1	Nail dysplasia, Alopecia universalis, Sparse hair, Subungual hyperkeratosis, Nail dystrophy, Palm...	OMIM:614594
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Breast aplasia	OMIM:612242
Epidermolysis Bullosa, Junctional 5A, Intermediate	Onycholysis of distal fingernails, Absent pubic hair, Nail dystrophy, Onychogryposis, Absent axil...	OMIM:619816
Ehlers-Danlos Syndrome, Beasley-Cohen Type	Excessive skin wrinkling on dorsum of hands and fingers, Narrow palpebral fissure, Cigarette-pape...	OMIM:608763
Leopard Syndrome 3	Few cafe-au-lait spots, Dry skin, Multiple lentigines, Downslanted palpebral fissures, Numerous n...	OMIM:613707
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Coffin-Siris Syndrome 8	Sparse scalp hair, Thick eyebrow, Eczema, Long eyelashes, Ptosis	OMIM:618362
Congenital Erythropoietic Porphyria	Severe photosensitivity, Recurrent bacterial skin infections, Ectropion, Skin erosion, Seborrhoei...	ORPHA:79277
Lipodystrophy, Partial, Acquired, Susceptibility To	Hirsutism, Nephrotic syndrome, Decreased serum complement C3, Membranoproliferative glomeruloneph...	OMIM:608709
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Hypertrichosis Cubiti	Generalized hirsutism, Thick eyebrow, Abnormal eyelid morphology, Abnormal nasolacrimal system mo...	ORPHA:2220
Brooke-Spiegler Syndrome	Salivary gland neoplasm, Nodular changes affecting the eyelids, Skin appendage neoplasm, Abnormal...	ORPHA:79493
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia...	OMIM:601399
Ectodermal Dysplasia 13, Hair/Tooth Type	Thin eyebrow, Low anterior hairline, Sparse eyelashes	OMIM:617392
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Olmsted Syndrome 2	Alopecia universalis, Woolly hair, Sparse hair, Palmoplantar hyperkeratosis, Hyperkeratosis, Peri...	OMIM:619208
Lipoid Proteinosis Of Urbach And Wiethe	Skin erosion, Patchy alopecia, Papule, Hyperkeratosis, Skin plaque	OMIM:247100
Sézary Syndrome	Hepatomegaly, Splenomegaly, Alopecia, Dry skin, Abnormal immunoglobulin level, Nail dystrophy, Er...	ORPHA:3162
Alazami-Yuan Syndrome	Hirsutism, Low anterior hairline, Thick eyebrow, Long eyelashes, Synophrys, Cryptorchidism, Highl...	OMIM:617126
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Cutaneous photosensitivity, Ichthyosis, Erythroderma, Skin ulcer, Palmoplantar ke...	ORPHA:312
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Hypoplastic toenails, Absent thumbnail, Absent fingernail, Absent toenail, Aplasia/Hypoplasia of ...	ORPHA:79499
Hyper-Igd Syndrome	Increased circulating IgA level, Chronic oral candidiasis, Skin rash, Splenomegaly, Neutrophilia,...	OMIM:260920
Non-Epidermolytic Palmoplantar Keratoderma	Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:2337
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair	Sparse hair	OMIM:272980
Trichotillomania	Alopecia	OMIM:613229
Cortisone Reductase Deficiency 1	Hirsutism, Alopecia	OMIM:604931
Immunodeficiency 36	Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Lymphopenia, S...	OMIM:616005
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin	OMIM:301021
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency, Thick eyebrow	ORPHA:529965
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hypoplastic toenails, Sparse hair, Sparse eyebrow, Sparse eyelashes, Downslanted palpebral fissur...	OMIM:616901
Rosselli-Gulienetti Syndrome	Nail dysplasia, Progressive hypotrichosis, Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Palmop...	OMIM:225000
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Progeroid facial appearance, Sparse eyebrow, Sparse eyelashes, Cutis laxa, Thi...	ORPHA:75496
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Immunodeficiency 50	Neutropenia, Decreased circulating antibody level, Lymphopenia	OMIM:300988
Ectodermal Dysplasia With Adrenal Cyst	Nail dysplasia, Ectodermal dysplasia, Breast hypoplasia, Hypoplastic nipples	OMIM:129550
Keratoderma Hereditarium Mutilans	Alopecia, Papule, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmoplantar hyperkerato...	ORPHA:494
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Eczema, Thrombocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells,...	OMIM:619802
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling, Upslanted palpebral fissure	OMIM:617950
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Decreased serum complemen...	ORPHA:329918
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Blepharitis, Sparse eyelashes, Sparse body hair, Dry skin, Hypohidrosis, Slow-growing hair	OMIM:618535
Hypotrichosis Simplex Of The Scalp	Sparse scalp hair, Atopic dermatitis, Allergic rhinitis, Hyperkeratosis, Fine hair, Scaling skin,...	ORPHA:90368
Ehlers-Danlos Syndrome, Classic Type, 2	Soft, doughy skin, Bruising susceptibility, Soft skin, Fragile skin, Hyperextensible skin	OMIM:130010
Oliver-Mcfarlane Syndrome	Decreased response to growth hormone stimulation test, Sparse hair, Alopecia, Long eyelashes, Lon...	OMIM:275400
Woolly Hair	Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai...	ORPHA:170
Lymphatic Filariasis	Hydrocele testis, Nephrotic syndrome, Orchitis, Circulating immune complexes, Urethral obstructio...	ORPHA:2035
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis	OMIM:615598
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Skin rash, Decreased serum complement C3, Complement deficiency, Decreased se...	ORPHA:567544
Immunodeficiency, Common Variable, 8, With Autoimmunity	B lymphocytopenia, Thrombocytopenia, Decreased specific antibody response to vaccination, Uveitis...	OMIM:614700
Diarrhea 9	Villous atrophy	OMIM:618168
Localized Junctional Epidermolysis Bullosa	Skin detachment, Sparse axillary hair, Sparse pubic hair, Atrophic, patchy alopecia, Fragile skin...	ORPHA:251393
Chilblain Lupus	Discoid lupus rash, Increased circulating antibody level, Inflammatory abnormality of the skin, A...	ORPHA:90280
Chylomicron Retention Disease	Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H...	OMIM:246700
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Sparse hair, Alopecia, Sparse eyelashes, Dry skin, Ichthyosis, Cholangitis, Thick...	OMIM:607626
Growth Factors, Combined Defect Of	Reduced subcutaneous adipose tissue, Plantar hyperkeratosis, Thin skin, Dermal atrophy	OMIM:233805
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Dystrophic toenail, Fine hair, Dystrop...	ORPHA:1882
Odontoonychodermal Dysplasia	Orthokeratosis, Sparse eyebrow, Short nail, Dry hair, Hyperhidrosis, Sparse body hair, Plantar hy...	OMIM:257980
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski...	OMIM:618944
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Onycholysis, Hypergranulosis, Palmoplantar hyperkeratosis, Nail dystrophy, Palmopla...	OMIM:148700
Hyperkeratosis-Hyperpigmentation Syndrome	Papule, Hyperkeratosis, Multiple cafe-au-lait spots, Cutaneous photosensitivity	ORPHA:1336
Immunodeficiency, Common Variable, 2	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par...	OMIM:240500
Keratosis Pilaris Atrophicans	Sparse eyebrow, Erythema, Papule, Absent eyelashes, Comedo	OMIM:604093
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant	Sparse scalp hair, Palmar pits, Comedo, Papule	OMIM:605827
C1Q Deficiency	Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity, Decreased s...	OMIM:613652
Complement Component 4A Deficiency	Systemic lupus erythematosus, Decreased serum complement C4, Glomerulonephritis, Purpura, Cutaneo...	OMIM:614380
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc...	OMIM:618394
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgA level, Hepatomegaly, Splenomegaly, Antinuclear antibody positivity, Inc...	OMIM:617388
Epidermolysis Bullosa Dystrophica Neurotrophica	Diffuse slow skin atrophy, Nail dystrophy, Nail dysplasia	OMIM:226500
Choroidal Atrophy-Alopecia Syndrome	Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi...	ORPHA:1433
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulatin...	OMIM:300861
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Sparse hair, Widow's peak	OMIM:606242
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
Rapp-Hodgkin Syndrome	Progressive alopecia, Sparse hair, Hypohidrosis, Decreased number of sweat glands, Anhidrotic ect...	OMIM:129400
Colonic Varices Without Portal Hypertension	Colonic varices, Intestinal bleeding	OMIM:120440
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dysplasia, Progressive hypotrichosis, Abnormality of hair texture, Brittle hair, Sparse eyeb...	OMIM:225060
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat...	OMIM:613502
Ichthyosis, Congenital, Autosomal Recessive 6	Congenital nonbullous ichthyosiform erythroderma, Ectropion, Orthokeratosis, Dry skin, Hypohidros...	OMIM:612281
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions	OMIM:619445
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, De...	OMIM:606367
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Sparse scalp hair, Ectodermal dysplasia, Sparse eyebrow, Sparse eyelashes	OMIM:225280
De Barsy Syndrome	Prominent veins on trunk, Failure to thrive, Progeroid facial appearance, Sparse hair, Cutis laxa...	ORPHA:2962
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom...	OMIM:300853
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi...	ORPHA:79506
Barber-Say Syndrome	Absent nipple, Inverted nipples, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse ey...	OMIM:209885
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Trichodental Dysplasia	Fine hair, Sparse hair, Brittle hair, Slow-growing hair	OMIM:601453
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ...	OMIM:613494
Wt Limb-Blood Syndrome	Sensorineural hearing impairment, Hypoplastic anemia, Pancytopenia, Thrombocytopenia, Leukemia	OMIM:194350
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Trichothiodystrophy 8, Nonphotosensitive	Woolly hair, Sparse hair, Cutis laxa, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Ichthyosis, Congenital, Autosomal Recessive 3	Congenital nonbullous ichthyosiform erythroderma, Ectropion, Erythema, Hypohidrosis, Hyperkeratos...	OMIM:606545
X-Linked Ehlers-Danlos Syndrome	Thin skin, Bruising susceptibility	ORPHA:75497
Pachyonychia Congenita	Palmoplantar hyperhidrosis, Cutaneous cyst, Palmar hyperkeratosis, Alopecia, Linear arrays of mac...	ORPHA:2309
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hidrotic ectodermal dysplasia, Sparse hair, Brittle hair, Coarse hair, Hyperkeratosis	ORPHA:1883
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin, Cutis marmorata	OMIM:615937
Congenital Disorder Of Glycosylation, Type Iq	Hypertrichosis, Cutis laxa, Eczema, Dry skin, Hyperkeratosis	OMIM:612379
Mandibuloacral Dysplasia With Type B Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance, Alopecia, Thin skin, Nail dystrophy, Ab...	ORPHA:90154
Omenn Syndrome	Nephrotic syndrome, Hepatomegaly, Leukocytosis, Alopecia, Splenomegaly, Aplasia/Hypoplasia of the...	ORPHA:39041
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Absent eyelashes	OMIM:182815
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Osteomyelitis, He...	OMIM:233710
Primary Erythromelalgia	Leukemia	ORPHA:90026
Epidermolysis Bullosa, Junctional 1A, Intermediate	Fragile nails, Nail dystrophy, Plantar hyperkeratosis, Patchy alopecia	OMIM:226650
19Q13.11 Microdeletion Syndrome	Nail dysplasia, Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Dry skin, Thin ski...	ORPHA:217346
Ehlers-Danlos Syndrome, Periodontal Type, 1	Bruising susceptibility, Palmoplantar cutis laxa, Poor wound healing, Thin skin, Atrophic scars	OMIM:130080
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Macule, Hypopigmentation of hair, Abnormal eyelash morphology, Cutan...	ORPHA:2885
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Pneumonia, Jaundice, Decreased proportion of naive T cells, Decreased circulating I...	ORPHA:276
Huriez Syndrome	Lack of skin elasticity, Dry skin, Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small...	ORPHA:384
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Trichothiodystrophy 9, Nonphotosensitive	Nail dystrophy, Sparse hair, Sparse eyebrow, Tiger tail banding	OMIM:619692
Immunodeficiency 8	Lymphopenia	OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Methylmalonic acid...	ORPHA:859
Erythrokeratodermia Variabilis Et Progressiva 3	Palmoplantar keratoderma, Hyperkeratosis, Erythema, Hypergranulosis	OMIM:617525
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy	OMIM:613217
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Thrombocytope...	OMIM:614493
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