Gene Summary

lysine demethylase and nuclear receptor corepressor
rh-bmh,  rh,  N,  ba,  bldy

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating HDL cholesterol level Hrem1(IMPC)H HOM Early adult 1.19×10-10
decreased circulating alkaline phosphatase level Hrem1(IMPC)H HOM Early adult 7.61×10-11
decreased circulating amylase level Hrem1(IMPC)H HOM Early adult 3.97×10-08
absent vibrissae Hrem1(IMPC)H HOM Early adult 1.20×10-18
decreased circulating cholesterol level Hrem1(IMPC)H HOM Early adult 4.34×10-08
abnormal coat/ hair morphology Hrem1(IMPC)H HOM Early adult 3.63×10-21
abnormal vibrissa morphology Hrem1(IMPC)H HOM Early adult 7.14×10-17
decreased lymphocyte cell number Hrem1(IMPC)H HOM Early adult 2.11×10-12
increased neutrophil cell number Hrem1(IMPC)H HOM Early adult 1.33×10-11

Download data as:  TSV  XLS

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Viewing: all phenotypes

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
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
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
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
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy OMIM:158000
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
Cutis laxa, Premature skin wrinkling ORPHA:228240
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
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
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
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
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 OMIM:126300
Long eyelashes OMIM:190330
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
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
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
Dohle Bodies And Leukemia