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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
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