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
increased neutrophil cell number Hrem1(IMPC)H HOM Early adult 1.33×10-11
decreased circulating alkaline phosphatase level Hrem1(IMPC)H HOM Early adult 7.61×10-11
absent vibrissae Hrem1(IMPC)H HOM Early adult 1.20×10-18
decreased lymphocyte cell number Hrem1(IMPC)H HOM Early adult 2.11×10-12
decreased circulating amylase level Hrem1(IMPC)H HOM Early adult 3.97×10-08
abnormal coat/ hair morphology Hrem1(IMPC)H HOM Early adult 3.63×10-21
abnormal vibrissa morphology Hrem1(IMPC)H HOM Early adult 7.13×10-17
decreased circulating cholesterol level Hrem1(IMPC)H HOM Early adult 4.34×10-08
decreased circulating HDL cholesterol level Hrem1(IMPC)H HOM Early adult 1.19×10-10

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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 universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
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
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Dystrophic toenail, Sparse hair OMIM:614928
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, 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
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Syringocystadenoma Papilliferum
Papule, Nevus sebaceous, Subcutaneous nodule, Sparse scalp hair ORPHA:840
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Lymphoma, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Dry skin, Nail dysplasia, Trichodysplasia, Ectodermal dysplasia, Thin skin OMIM:125640
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... ORPHA:2722
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... ORPHA:3361
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Cutis Laxa, Autosomal Dominant 2
Cutis laxa, Premature skin wrinkling OMIM:614434
L-Ferritin Deficiency
Alopecia OMIM:615604
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Toenail dysplasia, Sparse body hair, Dry skin, Melanocytic nevus, Fingernail dysplasia, Trichodys... ORPHA:1660
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di... OMIM:617294
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis OMIM:617756
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse eyebrow, Sparse eyelashes, Acrokeratosis, Absent eyebrow, Sparse scalp hair OMIM:620199
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Alopecia, Milia, Nail dystrophy, Hypomelanotic macule, Spotty hypopigmenta... ORPHA:79397
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Hidrotic Ectodermal Dysplasia
Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse... ORPHA:189
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Keratosis Follicularis, Dwarfism, And Cerebral Atrophy
Absent eyelashes, Absent eyebrow, Generalized keratosis follicularis, Absent hair OMIM:308830
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Splenomegaly, Increased circulating antibod... OMIM:614470
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia, ... OMIM:133180
Fibrinolytic Defect
Hyperextensible skin, Spontaneous hematomas OMIM:134900
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... ORPHA:2269
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Skin ulcer, Fine hair, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Telangiectasia of... ORPHA:2500
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Telangiectasia, Dystrop... ORPHA:158673
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Candidiasis, Familial, 1
Alopecia OMIM:114580
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Cutis laxa, Premature skin wrinkling ORPHA:228240
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Keratosis, Focal Palmoplantar And Gingival
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... OMIM:148730
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Generalized hypotrichosis, Ectodermal dysplasia OMIM:207780
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp... OMIM:616871
Progeroid facial appearance, Large hands, Premature skin wrinkling OMIM:221790
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Sparse lateral eyebrow, Dermal atrophy, Dry skin, Fac... ORPHA:3406
Tooth Agenesis, Selective, 8
Dry skin, Sparse eyebrow, Sparse hair OMIM:617073
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... OMIM:212360
Anonychia With Flexural Pigmentation
Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Macular telang... ORPHA:69125
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... OMIM:104100
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly... ORPHA:331206
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin na... OMIM:618625
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Hyp... ORPHA:98813
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ... OMIM:224750
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Hypotrichosis 6
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... OMIM:607903
Insulin-Resistance Syndrome Type A
Generalized hirsutism, Subcutaneous nodule, Hyperkeratosis ORPHA:2297
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Sensorineural hearing impairment ORPHA:2690
Hypohidrotic Ectodermal Dysplasia
Generalized hypopigmentation of hair, Failure to thrive, Breast aplasia, Trichorrhexis nodosa, Ap... ORPHA:238468
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Tooth Agenesis, Selective, 4
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin... OMIM:150400
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Hair-nail ectodermal dysplasia, Sparse body hair, Cong... OMIM:602032
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Atopic Keratoconjunctivitis
Keratitis, Dry skin, Allergic conjunctivitis, Loss of eyelashes, Chemosis, Conjunctival hyperemia... ORPHA:163934
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Non-Acquired Isolated Growth Hormone Deficiency
Premature skin wrinkling, Abdominal obesity, Prolonged neonatal jaundice, Sparse hair, Anterior h... ORPHA:631
Alopecia, Uveitis, Testicular mass, Sparse body hair, Paralytic lagophthalmos, Autoamputation of ... ORPHA:548
Keratosis Follicularis-Dwarfism-Cerebral Atrophy Syndrome
Absent eyelashes, Absent eyebrow, Generalized keratosis follicularis ORPHA:2339
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... OMIM:240500
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Fragile skin, Nail dystrophy, Congenital localized absence of skin OMIM:132000
Self-Improving Dystrophic Epidermolysis Bullosa
Skin erosion, Generalized abnormality of skin, Atrophic scars, Milia, Nail dystrophy, Aplasia cut... ORPHA:79411
Histiocytosis, Progressive Mucinous
Neoplasm of the skin, Mucinous histiocytosis OMIM:142630
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Progeroid facial appearance, Breast aplasia, Abnormal eyebrow morphology, Lack of skin ... ORPHA:90153
Centrifugal Lipodystrophy
Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Reduced subcutaneous adi... ORPHA:90156
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye... OMIM:602540
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Periodontitis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morpho... ORPHA:1008
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin ORPHA:2985
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey... ORPHA:79133
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Comedo, Sparse eyelashes, Spar... OMIM:604379
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... ORPHA:573
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormal fingernail morphology, Sparse hair, Thin skin ORPHA:1810
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Acrocyanosis, Abnormality of the nail OMIM:302000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia OMIM:252270
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Ectodermal dysplasia... OMIM:604536
Ectodermal Dysplasia 5, Hair/Nail Type
Dystrophic fingernails, Hair-nail ectodermal dysplasia, Absent toenail, Sparse scalp hair OMIM:614927
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Myelodysplasia, Sensorineural hearing impairment, Neutropenia, Acu... OMIM:610738
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro... OMIM:614929
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Moynahan Syndrome
Alopecia, Sparse hair, Hyperkeratosis ORPHA:2574
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... ORPHA:2891
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Cutis laxa, Redundant skin, Increased number of skin folds ORPHA:436274
Focal Facial Dermal Dysplasia 1, Brauer Type
Distichiasis, Sparse lateral eyebrow OMIM:136500
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Cutis laxa ORPHA:79148
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur... ORPHA:499
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... ORPHA:248
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Short 5th finger, Horizontal eyebrow, Long eyelashes, Thick eyebrow, Upslanted palpebral fissure,... OMIM:618608
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Classic Mycosis Fungoides
Erythema, Alopecia, Eczematoid dermatitis, Hypopigmented skin patches, Skin ulcer, Dry skin, Skin... ORPHA:2584
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Ichthyosis Hystrix Of Curth-Macklin
Autoamputation of digits, Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurr... ORPHA:79503
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of sk... ORPHA:1366
Proliferating Trichilemmal Cyst
Skin ulcer, Sparse scalp hair, Epidermoid cyst ORPHA:492
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... ORPHA:98827
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Spar... OMIM:308800
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Bullous Lichen Planus
Breast aplasia ORPHA:33408
Bathing Suit Ichthyosis
Thickened skin, Alopecia, Autoamputation of digits, Nail dystrophy, Ichthyosis, Parakeratosis, Hy... ORPHA:100976
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule ORPHA:1962
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Dystrophic toenail, Nevus, Abnormal fingernail morphology, Atrophic scars, Ridged n... ORPHA:89838
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d... ORPHA:2251
Transient Bullous Dermolysis Of The Newborn
Atrophic scars, Milia, Fragile skin, Nail dystrophy OMIM:131705
Schöpf-Schulz-Passarge Syndrome
Alopecia, Palmoplantar keratoderma, Facial telangiectasia, Ectodermal dysplasia, Aplasia/Hypoplas... ORPHA:50944
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse ... ORPHA:2890
Parana Hard Skin Syndrome
Generalized hirsutism, Thickened skin, Hyperkeratosis, Tapered finger ORPHA:2812
Barber-Say Syndrome
Failure to thrive, Breast aplasia, Sparse or absent eyelashes, Redundant skin, Generalized hirsut... ORPHA:1231
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Nephrotic syndrome, Lymphad... ORPHA:911
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Onycholysis, Fragile skin, Cutaneous photosensitivity OMIM:176100
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Lymphedema, Primary, With Myelodysplasia
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia OMIM:614038
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Abnormality of the nail, Congenital ichthyosiform erythroderma, Sparse body hair,... OMIM:602400
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Oligomenorrhea, Female infertility, Menorrhagia OMIM:615555
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Porphyria, Congenital Erythropoietic
Thickened skin, Alopecia, Cholelithiasis, Atypical scarring of skin, Hypertrichosis, Scleroderma,... OMIM:263700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity... OMIM:618495
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc... OMIM:300400
Congenital Heart Defects And Ectodermal Dysplasia
High anterior hairline, Thin skin, Dry skin, Medial flaring of the eyebrow, Sparse scalp hair, Fr... OMIM:617364
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebr... ORPHA:1818
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
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
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Lymphopenia, He... OMIM:618935
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly... OMIM:616099
Erythrokeratodermia Variabilis
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Cutan... ORPHA:317
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Short palpebral fissure, Clubbing of toes, Eczematoid dermatitis... ORPHA:3051
Focal Facial Dermal Dysplasia 3, Setleis Type
Low anterior hairline, Epicanthus, Distichiasis, Aged leonine appearance, Sparse hair, Absent low... OMIM:227260
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Hy... OMIM:618535
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal ... ORPHA:449395
Erythrokeratodermia Variabilis Et Progressiva 2
Skin plaque, Erythema, Hypertrichosis OMIM:617524
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Ectodermal dysplasia, Hypohid... OMIM:129490
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Cutis laxa, Redundant skin ORPHA:91135
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... OMIM:615895
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, White papule... ORPHA:498359
Renal Hypodysplasia/Aplasia 2
Redundant skin OMIM:615721
Incontinentia Pigmenti
Erythema, Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplas... OMIM:308300
Hepatoerythropoietic Porphyria
Seborrhoeic blepharitis, Thickened skin, Facial hypertrichosis, Skin erosion, Loss of eyelashes, ... ORPHA:95159
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Hypohidrosis, Abnormal eyelash morphology, Abnormality of the n... OMIM:614237
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Leukemia OMIM:614743
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Pustular rash, Lymphopenia, Cutis marmorata, Follicular hyperplasia, Pustule, Telangiec... OMIM:615934
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Short toe, Short finger, Abnormal hair ... OMIM:242100
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alopecia of scalp, Aplasia cuti... ORPHA:79402
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease... OMIM:616100
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Milia, Nail dystrophy, Hypomelanotic macule, Spotty hypopigmentation, Palm... ORPHA:79399
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type
Hair-nail ectodermal dysplasia, Dystrophic toenail, Sparse or absent eyelashes, Dystrophic finger... OMIM:602401
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Anti-glutamic acid d... OMIM:304790
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Downslanted palpebral ... ORPHA:1807
N Syndrome
Leukemia, Neoplasm, Hearing impairment OMIM:310465
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Hepatosplen... OMIM:618982
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ... OMIM:619375
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Hypohidrosis, Thin skin ORPHA:1658
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me... OMIM:613779
Cutis Laxa, Autosomal Recessive, Type Iiib
Fine hair, Cryptorchidism, Excessive wrinkled skin, Cutis laxa, Prominent superficial veins, Derm... OMIM:614438
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Loss of eyelashes ORPHA:2821
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Bruising susceptibility, Striae distensae, Petechiae, Thin skin OMIM:225310
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg... ORPHA:79395
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt... ORPHA:436159
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Nephrotic synd... OMIM:617006
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Immunodeficiency 18
Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abnormal B cell count, De... OMIM:615615
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec... OMIM:615577
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para... OMIM:300918
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Large clumps of pigment irregularly... OMIM:214450
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... OMIM:614420
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Progeroid Syndrome, Petty Type
Sparse hair, Short distal phalanx of finger, Abnormal hair morphology, Thick eyebrow, Redundant s... ORPHA:2963
Distichiasis OMIM:126300
Three rows of eyelashes OMIM:190800
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Palmar telangiectasia, Absent eyelashes, Absent eyebro... OMIM:607823
Immunodeficiency 27A
Pneumonia, Rheumatoid factor positive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenome... OMIM:209950
Long eyelashes OMIM:190330
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Generalized abnormality of skin, Palmoplantar hyperkeratosi... ORPHA:737
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Angular ch... OMIM:613102
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE le... ORPHA:169154
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... OMIM:601952
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Microphthalmia, Syndromic 8
Short palpebral fissure, Premature skin wrinkling, Cryptorchidism, Blepharophimosis, Split foot OMIM:601349
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para... OMIM:242300
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Warfarin-induced skin necrosis, Purpura, Thin skin ORPHA:745
Lichen Planopilaris
Alopecia, Hepatitis, Hypopigmented skin patches, Skin ulcer, Pterygium, Abnormal fingernail morph... ORPHA:525
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Sparse body hair, Abnormal fingernail morphology, Abnormal toenail morpholo... ORPHA:1809
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Trichothiodystrophy 7, Nonphotosensitive
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... OMIM:618546
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Thickened skin, Hyperkeratosis ORPHA:1659
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Tibial torsion, Epicanthus, Talipes equinovarus, Long toe, Chalazion, Long fingers OMIM:613355
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:615598
Prolidase Deficiency
Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, White f... ORPHA:742
Adult Syndrome
Alopecia, Absent nipple, Toenail dysplasia, Skin ulcer, Fine hair, Breast hypoplasia, Dry skin, F... ORPHA:978
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Breast aplasia, Decreased test... ORPHA:3044
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Abnormal toenail morphology, Skin plaque, ... ORPHA:89843
Alpha-Heavy Chain Disease
Alopecia, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly ORPHA:100025
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Nail dystrophy OMIM:131850
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre... OMIM:612783
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Aldh18A1-Related De Barsy Syndrome
Hyperextensible skin ORPHA:35664
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma OMIM:613576
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... OMIM:604117
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Ehlers-Danlos Syndrome, Classic Type, 2
Bruising susceptibility, Soft, doughy skin, Hyperextensible skin, Talipes equinovarus, Fragile sk... OMIM:130010
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Nail dystrophy, Spar... OMIM:612843
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Milia, Sparse or absent eyelashes, Pili torti,... ORPHA:113
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Clinodactyly, Anti-beta-2-Glycoprotein I IgG antibody pos... OMIM:618048
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Subcutaneous hemorrhage, Aplasia/Hypoplasia of the skin, Purpura, Thin skin ORPHA:743
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Rombo Syndrome
Abnormal eyebrow morphology, Facial telangiectasia, Abnormal eyelash morphology OMIM:180730
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Hirsutism, Proteinuria, Hematuria, Membranoproliferative g... OMIM:608709
Lamellar Ichthyosis
Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, E... ORPHA:313
Adult Syndrome
Absent nipple, Wide intermamillary distance, Fair hair, Breast hypoplasia, Dry skin, Alopecia of ... OMIM:103285
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Cutaneous photosensitivity ORPHA:735
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Facial hypertrichosis, Aplasia of the distal phalanx of the 5th t... OMIM:618658
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Alopecia, Reduced subcutaneous adipose t... OMIM:137940
Papular Xanthoma
Histiocytosis ORPHA:158008
Flynn-Aird Syndrome
Dermal atrophy, Alopecia, Alopecia of scalp, Hyperkeratosis OMIM:136300
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule ORPHA:2028
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Thin skin, Skin dimple ORPHA:261304
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair OMIM:608615
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Limb-Mammary Syndrome
Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Dry skin, Psoriasiform dermatitis, Aplas... ORPHA:69085
Autoimmune Lymphoproliferative Syndrome
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... ORPHA:3261
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Hearing impairment, Pancytopenia, Acute myeloid leukemia, Thrombocyt... OMIM:616435
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Autoimmune thrombocytopenia, R... OMIM:301082
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Low posterior hairline, P... ORPHA:2617
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency, Thick eyebrow ORPHA:529965
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Finger syndactyly, Fine hair, Supernumerary nipple, Abnormal fingernail morpho... ORPHA:1433
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Breast aplasia OMIM:612242
Olmsted Syndrome 2
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos... OMIM:619208
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Leopard Syndrome 3
Webbed neck, Palpebral thickening, Downslanted palpebral fissures, Multiple lentigines, Few cafe-... OMIM:613707
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Woolly hair, Palmoplantar keratoderma OMIM:620415
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Hypertrichosis Cubiti
Rhizomelia, Micromelia, Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal syst... ORPHA:2220
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyeliti... ORPHA:319552
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin OMIM:301021
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Coffin-Siris Syndrome 8
Eczematoid dermatitis, Hypertrichosis, Long eyelashes, Thick eyebrow, Cryptorchidism, Ptosis, Spa... OMIM:618362
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Cutis marmorata, Hyperextensible skin, Postaxial hand polydactyly OMIM:615937
Pilarowski-Bjornsson Syndrome
Broad eyebrow, Long eyelashes, Dermal translucency OMIM:617682
Congenital Erythropoietic Porphyria
Seborrhoeic blepharitis, Thickened skin, Facial hypertrichosis, Skin erosion, Loss of eyelashes, ... ORPHA:79277
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Lipoid Proteinosis Of Urbach And Wiethe
Skin erosion, Patchy alopecia, Skin plaque, Papule, Hyperkeratosis OMIM:247100
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Failure to thrive, Progeroid facial appearance, Slender build, Generalized lipodystrophy, Small f... ORPHA:50811
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E... OMIM:614700
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Arachnodactyly, Cutis laxa OMIM:614100
Brooke-Spiegler Syndrome
Skin nodule, Skin ulcer, Skin appendage neoplasm, Abnormality of the submandibular glands, Skin-c... ORPHA:79493
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Cutaneous photosensitivity, Ichthyosis, Conjunctival hamart... ORPHA:312
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Finger swelling, Skin ulcer, Systemic l... ORPHA:90280
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Knee... ORPHA:2035
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Elevated ... OMIM:260920
Diffuse Palmoplantar Keratoderma, Bothnian Type
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia/Hypoplasia of the nails, Absent toenail, Absent fifth fingernail, Hypoplastic toenails, A... ORPHA:79499
Sézary Syndrome
Alopecia, Palmoplantar keratoderma, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Nail ... ORPHA:3162
Alazami-Yuan Syndrome
Highly arched eyebrow, Broad hallux, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterior ... OMIM:617126
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... OMIM:619802
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morphology, Papule, Hyperkerato... ORPHA:494
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Decrease... OMIM:300853
Combined Oxidative Phosphorylation Deficiency 36
Upslanted palpebral fissure, Premature skin wrinkling OMIM:617950
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse eyebrow, Atypical scarring of skin, Progeroid facial appearance, Atrophic scars, Sparse ey... ORPHA:75496
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot... ORPHA:329918
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato... ORPHA:90368
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypoplastic nipples, Ectodermal dysplasia, Nail dysplasia OMIM:129550
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atrophic, patchy alopeci... ORPHA:251393
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Immunodeficiency 19
Recurrent otitis media, Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer ce... OMIM:615617
Diarrhea 9
Villous atrophy OMIM:618168
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Reduced circulating complement concentration, Abnormal glomerular mesangium ... ORPHA:567544
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv... OMIM:617337
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... ORPHA:1882
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p... OMIM:620507
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera... OMIM:148700
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai... OMIM:194300
Rapp-Hodgkin Syndrome
Sparse hair, Sparse eyebrow, Thin skin, Palmoplantar keratoderma, Small nail, Decreased number of... OMIM:129400
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Oliver-Mcfarlane Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Long eyelashes, Cryptorchidism, ... OMIM:275400
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse eyebrow, 1-4 finger syndactyly, 3-4 toe syndactyly, Sparse eyelashes, 2-4 finger syndactyl... OMIM:225280
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Papule, Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... OMIM:613652
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Orthokeratosis, Dry skin, Parakeratosis, Hypohidrosis, Erythroderma, Sc... OMIM:612281
Ichthyosis, Annular Epidermolytic, 1
Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou... OMIM:607602
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
Palmar pits, Papule, Sparse scalp hair, Comedo OMIM:605827
Odontoonychodermal Dysplasia
Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Sparse eyeb... OMIM:257980
Epidermolysis Bullosa Dystrophica Neurotrophica
Nail dysplasia, Nail dystrophy, Diffuse slow skin atrophy OMIM:226500
Alopecia OMIM:613229
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Antin... OMIM:617388
Olmsted Syndrome 1
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... OMIM:614594
Complement Component 4A Deficiency
Systemic lupus erythematosus, Cutaneous photosensitivity, Decreased circulating complement C4 con... OMIM:614380
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... OMIM:613494
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... OMIM:618394
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Hirsutism, Decreased circulatin... OMIM:300861
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Decreased circulating IgG level, Cutaneous abscess, Recurrent otitis media, In... OMIM:618944
Geroderma Osteodysplasticum
Periodontitis, Progeroid facial appearance, Downslanted palpebral fissures, Abnormal hair morphol... OMIM:231070
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Comedo, Ridged nail, Sparse eyelashes, Sparse a... OMIM:278150
Pachyonychia Congenita
Onychogryposis of fingernail, Alopecia, Cutaneous cyst, Palmoplantar keratoderma, Epidermoid cyst... ORPHA:2309
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Omenn Syndrome
Pneumonia, Thickened skin, Alopecia, Short toe, Dry skin, Abnormal lymphocyte morphology, Autoimm... ORPHA:39041
De Barsy Syndrome
Failure to thrive, Prominent veins on trunk, Progeroid facial appearance, Cryptorchidism, Excessi... ORPHA:2962
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... ORPHA:54370
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Nail dystrophy, Sp... OMIM:605676
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Keratosis Pilaris Atrophicans
Erythema, Sparse eyebrow, Comedo, Absent eyelashes, Papule OMIM:604093
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Ectodermal Dysplasia 13, Hair/Tooth Type
Downslanted palpebral fissures, Thin eyebrow, Sparse eyelashes, Low anterior hairline, Ectodermal... OMIM:617392
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re... ORPHA:83313
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Fine hair, Premature graying of hair, Gastrointestinal telangiectasia, Nail dystrophy, Nail dyspl... OMIM:612199
X-Linked Ehlers-Danlos Syndrome
Bruising susceptibility, Thin skin ORPHA:75497
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Xq27.3Q28 Duplication Syndrome
Failure to thrive, Sparse body hair, Decreased testicular size, Gynecomastia, Cryptorchidism, Tru... ORPHA:261483
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Coarse hair, Hidrotic ectodermal dysplasia, Brittle hair, Sparse hair, Hyperkeratosis ORPHA:1883
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Acute myeloid leukemia OMIM:616604
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails OMIM:226650
Trichothiodystrophy 8, Nonphotosensitive
Sparse eyebrow, Trichorrhexis nodosa, Woolly hair, Cutis laxa, Sparse hair OMIM:619691
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Anhidrosis, Ectropion, Hyperkeratos... OMIM:606545
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal... ORPHA:276
Nicolaides-Baraitser Syndrome
Dry hair, Broad 2nd toe, Unilateral narrow palpebral fissure, Cryptorchidism, Excessive wrinkled ... OMIM:601358
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Huriez Syndrome
Small nail, Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Abnormality of the... ORPHA:384
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Er... OMIM:617526
Congenital Disorder Of Glycosylation, Type Iq
Eczematoid dermatitis, Hypertrichosis, Dry skin, Cutis laxa, Hyperkeratosis OMIM:612379
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, L