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Gene: Rhbdf2 MGI:2442473

Gene Summary

Name:

rhomboid 5 homolog 2

Synonyms:

iRhom2, cub, Rhbdl6, 4732465I17Rik, Uncv

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
alopecia	Rhbdf2^Rhbdf2	HOM	Early adult	1.18×10^-19
decreased circulating creatinine level	Rhbdf2^Rhbdf2	HOM	Early adult	8.49×10^-15
decreased B cell number	Rhbdf2^Rhbdf2	HOM	Early adult	3.01×10^-05
increased B cell number	Rhbdf2^tm1.1Mfm	HOM	Early adult	3.82×10^-05
abnormal hair growth	Rhbdf2^{em1(IMPC)Wtsi}	HOM	Early adult	1.05×10^-05
abnormal coat appearance	Rhbdf2^{em1(IMPC)Wtsi}	HOM	Early adult	2.23×10^-17
decreased bone mineral density	Rhbdf2^Rhbdf2	HOM	Early adult	3.79×10^-06
abnormal bone mineralization	Rhbdf2^tm1.1Mfm	HOM	Early adult	5.78×10^-05
increased mean corpuscular hemoglobin	Rhbdf2^{em1(IMPC)Wtsi}	HOM	Early adult	7.08×10^-05
abnormal coat appearance	Rhbdf2^{em1(IMPC)Wtsi}	HET	Early adult	2.22×10^-11
decreased circulating alkaline phosphatase level	Rhbdf2^Rhbdf2	HOM	Early adult	9.42×10^-09
increased circulating magnesium level	Rhbdf2^{em1(IMPC)Wtsi}	HOM	Early adult	9.33×10^-05
abnormal vibrissa morphology	Rhbdf2^{em1(IMPC)Wtsi}	HET	Early adult	6.82×10^-06
increased total body fat amount	Rhbdf2^Rhbdf2	HOM	Early adult	4.49×10^-07
tremors	Rhbdf2^Rhbdf2	HOM	Early adult	6.92×10^-06
increased bone mineral content	Rhbdf2^Rhbdf2	HOM	Early adult	5.29×10^-05
decreased circulating HDL cholesterol level	Rhbdf2^Rhbdf2	HOM	Early adult	5.31×10^-05
abnormal vibrissa morphology	Rhbdf2^{em1(IMPC)Wtsi}	HOM	Early adult	1.60×10^-07
trunk curl	Rhbdf2^Rhbdf2	HOM	Early adult	3.10×10^-05
abnormal response to new environment	Rhbdf2^Rhbdf2	HOM	Early adult	7.12×10^-05
abnormal response to tactile stimuli	Rhbdf2^Rhbdf2	HOM	Early adult	6.77×10^-06
increased circulating glucose level	Rhbdf2^Rhbdf2	HOM	Early adult	2.44×10^-05

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Human diseases caused by Rhbdf2 mutations

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

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

Human diseases associated with Rhbdf2 (2 diseases)
Human diseases predicted to be associated with Rhbdf2 (1476 diseases)

The table below shows human diseases associated to Rhbdf2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tylosis With Esophageal Cancer		Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome		Palmoplantar keratoderma	ORPHA:2198

The table below shows human diseases predicted to be associated to Rhbdf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratos...	ORPHA:505
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2297
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp...	OMIM:617294
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Mannose-Binding Lectin Deficiency	Disseminated cryptosporidium infection, Recurrent herpes, Recurrent Klebsiella infections, Recurr...	OMIM:614372
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus	ORPHA:737
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin, Generalized hyperpigmentation, Generalized hirsutism	ORPHA:2812
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:613502
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Alopecia, Recurrent ...	ORPHA:499
Ectodermal Dysplasia 5, Hair/Nail Type	Sparse scalp hair, Dystrophic fingernails, Absent toenail	OMIM:614927
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes	OMIM:620199
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Recurrent infections	OMIM:235900
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit...	OMIM:613501
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Aredyld	Generalized hypotrichosis	OMIM:207780
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Pruritus, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf...	OMIM:612692
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Abnor...	OMIM:619565
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, Nail dysplasia, Sc...	OMIM:212360
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of...	ORPHA:90368
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Immunodeficiency 51	Recurrent respiratory infections, Abnormal lymphocyte physiology, Recurrent cutaneous fungal infe...	OMIM:613953
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai...	ORPHA:1008
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:89838
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spo...	ORPHA:79399
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,...	OMIM:209920
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyp...	ORPHA:79395
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
L-Ferritin Deficiency	Alopecia	OMIM:615604
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Recurrent otitis media, Nail dystrop...	OMIM:618625
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity	OMIM:611105
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt...	OMIM:242300
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Palmoplantar keratoderma, Fi...	ORPHA:2251
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula...	ORPHA:2890
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Recurrent pneumonia, Decreased circulating total IgM, Rec...	OMIM:607594
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation	ORPHA:1336
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Patchy ...	ORPHA:346
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa...	OMIM:129500
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Recurrent bacterial infections, Chronic decreased...	OMIM:613496
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Patchy palmoplantar hyperke...	ORPHA:317
Flynn-Aird Syndrome	Alopecia, Increased bone mineral density, Ataxia, Joint stiffness, Osteoporosis, Dementia, Increa...	OMIM:136300
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto...	OMIM:614561
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Porphyria Cutanea Tarda	Alopecia, Onycholysis, Facial hypertrichosis, Scleroderma, Hyperpigmentation in sun-exposed areas	OMIM:176100
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Hepatomegaly, Imp...	OMIM:308230
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections	OMIM:616941
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly	OMIM:607624
Immunodeficiency 67	Increased circulating IgE level, Liver abscess, Recurrent streptococcal infections, Recurrent sta...	OMIM:607676
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Pruritus, Hyperkerat...	OMIM:602400
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin, Patchy alopecia	OMIM:247100
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Recurrent bacterial infections, Low neutrophil alkalin...	OMIM:245480
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Hyperkeratosis, Freckling, Pili torti	ORPHA:1573
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Abnormal immunoglobulin level, Recurrent mycobacterial infections, Invasive fungal infection, Inc...	ORPHA:98813
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Myoclonus, Hypocholesterolemia, Thrombocytopenia...	OMIM:610539
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci...	OMIM:616636
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation, Hyperkeratosis	ORPHA:315
Saccharopinuria	Citrullinuria, Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic...	ORPHA:3124
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Recurrent herpes, Hepatomegaly, Abnormal immunoglobulin leve...	ORPHA:276
Ulerythema Ophryogenesis	Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis, Sparse lateral eyebrow	ORPHA:3406
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l...	OMIM:619924
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, I...	OMIM:615821
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ...	ORPHA:399805
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Recurrent infectio...	OMIM:301045
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he...	ORPHA:572
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmar pruritus, Palmoplantar keratoderma, Atopic dermatitis	ORPHA:498359
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Nail dystroph...	ORPHA:100976
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia, Nail dysplasia, Anemia	OMIM:175500
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Chronic (near) absent circu...	OMIM:614699
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Cernunnos-Xlf Deficiency	Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level	ORPHA:169079
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyeb...	OMIM:275400
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ich...	OMIM:607602
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:615048
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, ...	OMIM:612843
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis	OMIM:613779
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Hypopigmented skin patches, Hyperkeratosis, Irregular hyperpigmentat...	ORPHA:2584
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Recurrent infec...	OMIM:613759
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr...	ORPHA:216873
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:243700
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor...	OMIM:613576
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra...	OMIM:213600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Recurrent viral infections, Decreased circulating an...	ORPHA:331206
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis	OMIM:619549
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Schöpf-Schulz-Passarge Syndrome	Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod...	OMIM:615206
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h...	ORPHA:2199
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Abnormality of the nail	ORPHA:79394
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra...	OMIM:615362
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections, Increased circulating antibody level	OMIM:202700
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Bazex Syndrome	Parakeratosis, Yellow nails, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ...	ORPHA:166113
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia...	OMIM:261630
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Hyperkeratosis, ...	ORPHA:525
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Poor motor coordination, Reduc...	ORPHA:363400
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Depression, Increas...	OMIM:615830
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Hepatosplenomegaly, Recurrent infections, Decreased circulatin...	OMIM:618261
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k...	ORPHA:2897
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c...	ORPHA:158061
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Fibrodysplasia Ossificans Progressiva	Alopecia, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossifica...	ORPHA:337
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Hyperkeratosis, Congenital ichthy...	OMIM:242100
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Hypomagnesemia	OMIM:616418
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Increased susceptibility to fractures, Dystonia, Mental deterioration, Abnorm...	OMIM:304700
Hypomagnesemia 6, Renal	Hypomagnesemia	OMIM:613882
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Darier Disease	Acrokeratosis, Abnormal hair morphology, Thickened skin, Pruritus, Palmoplantar keratoderma, Abno...	ORPHA:218
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Alopecia, Erythroderma, Ichthyosis	OMIM:618840
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Agammaglobulinemia, Decreased circulating total IgM, Recurrent ...	OMIM:619707
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections	OMIM:615214
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Thick eyebrow	OMIM:606242
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Osteoarthritis, Osteoporosis, Depression, Memory impairment, Hyperostosis fron...	ORPHA:77296
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Babinski ...	OMIM:128100
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Meningitis, Invasive fungal infection, Severe infection, Seve...	ORPHA:83471
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b...	ORPHA:2688
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy	ORPHA:89843
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails...	ORPHA:1882
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse body hair	OMIM:618535
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Tetraplegia, Hand tremor, Fasciculations, Hyperglycemia, Mildly elevated creatine...	OMIM:604484
Immunodeficiency 15B	Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, Decreased lymphoc...	OMIM:615592
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retin...	ORPHA:3363
Huntington Disease-Like 1	Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness...	ORPHA:157941
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc...	OMIM:608600
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Folliculitis, Palmoplant...	OMIM:308800
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma, Alopecia of s...	OMIM:608649
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations...	ORPHA:276435
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recurrent pne...	OMIM:300400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly	OMIM:618982
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections	OMIM:619693
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Immunodeficiency 110 With Lymphoproliferation	Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se...	OMIM:614868
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, Decr...	ORPHA:183675
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ...	ORPHA:314632
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod...	ORPHA:312
Acute Lung Injury	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:178320
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Memory impairment	OMIM:614018
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair	ORPHA:1883
Vulvovaginal Gingival Syndrome	Parakeratosis, Abnormality of tumor necrosis factor secretion	ORPHA:83453
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni...	OMIM:606438
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Alopecia, Lipodystrophy, Insulin-resi...	OMIM:248370
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Tremor, Hypocystinemia	OMIM:617744
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections, Recurrent...	OMIM:615468
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis	ORPHA:1366
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing...	OMIM:604536
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Epilepsy, Progressive Myoclonic 7	Tremor, Mental deterioration, Ataxia, Myoclonus	OMIM:616187
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Calcific stippling of infantile cartilaginous skeleton, Flexion contracture, Elevated c...	OMIM:215100
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ...	ORPHA:90280
Colchicine Poisoning	Hyponatremia, Alopecia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokal...	ORPHA:31824
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Inc...	OMIM:616005
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Lamellar Ichthyosis	Chronic otitis media, Erythroderma, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormality of the n...	ORPHA:313
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Recurrent viral infections, Increased circ...	OMIM:618048
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,...	ORPHA:90156
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi...	OMIM:618093
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Generalized ichthyosis, Absent ax...	ORPHA:2269
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Au...	OMIM:615559
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Dystonia 12	Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability	OMIM:128235
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Increased circulating IgE level, Recurrent pneumonia, Chronic...	OMIM:147060
Ramon Syndrome	Hyperkeratosis, Abnormality of retinal pigmentation, Generalized hirsutism	ORPHA:3019
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Mental dete...	OMIM:208920
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas	OMIM:615704
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity	OMIM:615768
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat...	ORPHA:240103
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair	ORPHA:2985
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Recurrent pneumonia, Hepatitis, Recurrent candida infections, Recurrent infecti...	ORPHA:169160
Immunodeficiency 47	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating copper concentration, Elevated...	OMIM:300972
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Immunodeficiency, Common Variable, 14	Decreased circulating total IgM, Recurrent sinusitis, Decreased specific antibody response to vac...	OMIM:617765
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Rec...	OMIM:616576
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Anemia	ORPHA:100024
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Limb joint contracture, Elevated circulating creatine kinase concentration, Pa...	OMIM:617013
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Multinodular goiter, Palmoplantar keratoderma, Hypomelanotic mac...	OMIM:618373
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Babinski...	OMIM:309400
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme...	OMIM:617284
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Spotty hypopigmentation, A...	ORPHA:1867
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Orthokeratosis, Sclerosing...	OMIM:607626
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration...	OMIM:620366
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,...	OMIM:145250
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, Nail dystr...	ORPHA:158681
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Systemic Lupus Erythematosus 17	Alopecia, Malar rash, Optic neuritis, Myelitis	OMIM:301080
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Hyperkeratosi...	ORPHA:238468
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ...	OMIM:613179
Netherton Syndrome	Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Brittle scalp hair, Ec...	OMIM:256500
Atrophoderma Vermiculata	Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis	ORPHA:2698
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Anemia, Hypomagnesemia	OMIM:244460
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair	ORPHA:79402
Classic Phenylketonuria	Hypopigmentation of hair, Tremor, Mental deterioration, Paraplegia, Depression, Hypertonia, Atten...	ORPHA:79254
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Short attention span, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Titubatio...	ORPHA:225147
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H...	ORPHA:79431
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb...	ORPHA:54057
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Bronchiectasis, ...	OMIM:618282
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc...	OMIM:159950
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Speech apraxia, Lower limb spasticity, Alopecia, Postural tremor, Rigidity, Hand tremor, Limb ata...	ORPHA:412057
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoath...	OMIM:261640
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Erythroderma, Palmoplantar keratoderma, Conjunctivitis, Ichthyosis, Sparse hair, Fragil...	OMIM:242150
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant...	OMIM:605676
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary	OMIM:241090
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i...	ORPHA:98763
Nicolaides-Baraitser Syndrome	Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidism, ...	ORPHA:3051
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, I...	OMIM:233910
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa...	ORPHA:240085
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppre...	ORPHA:189427
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n...	OMIM:212050
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morph...	ORPHA:93160
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Spasticity, Opisthotonus, Increased susceptibility to fractures, Cognitive ...	ORPHA:216866
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Flynn-Aird Syndrome	Alopecia, Ataxia, Joint stiffness, Bone cyst, Dementia, Type II diabetes mellitus	ORPHA:2047
Rhizomelic Chondrodysplasia Punctata	Alopecia, Sparse body hair, Ichthyosis	ORPHA:177
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus	OMIM:618084
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Hypertrichosis	OMIM:612379
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233710
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Rec...	OMIM:606367
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Leukonychia, Hy...	OMIM:616295
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Elevated circulating creatine kinas...	OMIM:612953
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis	ORPHA:1028
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Babinski sign, Flexion contracture, Hypertonia, Mental deterioration, Spasticity	OMIM:609260
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Hypergranulosis, Th...	OMIM:257980
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Leopard Syndrome 3	Few cafe-au-lait spots, Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkerato...	OMIM:613707
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab...	ORPHA:2930
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Abnorm...	ORPHA:428
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio...	ORPHA:911
Adrenoleukodystrophy	Alopecia, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Dementia,...	OMIM:300100
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Absence of subcutaneous fat, Erythroderma, Fine hair, Hyperkeratosis...	OMIM:601675
Lichen Planus Pemphigoides	Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Blepharitis, Abnormality of the nail	ORPHA:254478
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Limb fasciculations, Elevated circulating creatine kinase concentration, Abnormal glucose...	ORPHA:90117
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i...	OMIM:615508
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Irregular hyperpigmentation	ORPHA:3162
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer...	ORPHA:254881
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs...	OMIM:148210
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233690
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci...	OMIM:300539
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hyperkeratosis, Ichthyosis, I...	ORPHA:816
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy	OMIM:616029
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Ab...	ORPHA:37042
Dermoodontodysplasia	Sparse scalp hair, Fingernail dysplasia, Trichodysplasia, Toenail dysplasia, Sparse body hair	ORPHA:1660
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Incontinentia Pigmenti	Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Nail pits, Fine ...	OMIM:308300
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, Myoclonus,...	ORPHA:79263
Proteus Syndrome	Lipoma, Hyperkeratosis, Multiple lipomas, Depigmentation/hyperpigmentation of skin	OMIM:176920
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Limb joint contracture, Motor deterioration, Upper...	OMIM:612079
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Hemochromatosis, Type 1	Alopecia, Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Osteopor...	OMIM:235200
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
Fanconi Renotubular Syndrome 3	Glycosuria, Aminoaciduria, Elevated circulating creatinine concentration, Rickets	OMIM:615605
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Toenail dysplasia	OMIM:615907
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia	OMIM:619908
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormal fingernail morphology, Sparse body hair	ORPHA:1810
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
Recessive X-Linked Ichthyosis	Hyperkeratosis, Cryptorchidism, Ichthyosis	ORPHA:461
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Flexion contracture, Clumsiness, Hepatosplenomegaly, Eyelid myoclonus, Myoclonus, Mental ...	ORPHA:2590
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans	ORPHA:409
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Irritability, Dystonia, Thrombocytopenia	OMIM:615010
Alpha-Heavy Chain Disease	Splenomegaly, Alopecia, Hypocalcemia, Anemia	ORPHA:100025
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Hyperhomocystinemia, Normochromic ane...	OMIM:614857
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H...	OMIM:607823
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia	OMIM:300337
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Hypopigmented skin patches, Hashimoto thyroiditis	ORPHA:3143
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Bronchiectasis, Reticular hyperpigmentation, Generalized reticulate brown pi...	OMIM:301220
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasti...	ORPHA:2298
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia	OMIM:617056
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Progressive neurologic deterioration, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hy...	ORPHA:276608
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Recurrent pneumonia, Reticular hyperpigmentati...	OMIM:604173
Neuroferritinopathy	Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Palatal tremor, Chorea, Babi...	ORPHA:157846
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Hyperammonemia, Irritability, Thrombocytopenia	ORPHA:79242
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Osteolysis, G...	ORPHA:90154
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urinary acylglycine pro...	ORPHA:391417
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair	OMIM:615279
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Naxos Disease	Curly hair, Subungual hyperkeratosis, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker...	OMIM:601214
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:181
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Fine hair, Abnormality of skin pigmentation, Hyperkeratosis, Kera...	ORPHA:1806
Prolidase Deficiency	Abnormality of retinal pigmentation, Abnormal fingernail morphology, Crusting erythematous dermat...	ORPHA:742
Satoyoshi Syndrome	Osteolytic defects of the phalanges of the hand, Alopecia, Mildly elevated creatine kinase, Alope...	OMIM:600705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Hepatomegaly, Recurrent viral infections, Increased circulatin...	OMIM:102700
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse body hair	ORPHA:59303
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Thickened skin, Palmoplantar keratoderma, Sparse hair	ORPHA:659
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Sparse eyelashes	OMIM:300946
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Hyperpigmentation of the skin	ORPHA:50812
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperkeratosis, Chronic rhinitis	OMIM:615225
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Recurrent p...	ORPHA:47
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Recurrent enterovi...	ORPHA:79124
Ataxia-Telangiectasia	Hypopigmentation of hair, Diabetes mellitus, Ataxia, Tremor, Premature graying of hair, Type II d...	ORPHA:100
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent b...	ORPHA:169090
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Preeclampsia	Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Noonan Syndrome 8	Curly hair, Eczema, Cryptorchidism, Hyperkeratosis, Hyperpigmentation of the skin	OMIM:615355
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Acute hyperammonemia, Cerebral palsy, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Op...	OMIM:210210
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Deme...	OMIM:600142
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Elevated circu...	OMIM:116920
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Trisomy X	Tremor, Depression, Joint hyperflexibility, Attention deficit hyperactivity disorder, Cognitive i...	ORPHA:3375
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero...	OMIM:618156
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Hydrocele testis, Sparse body hair	ORPHA:69735
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Hirsutism, Intention ...	OMIM:610185
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail...	ORPHA:3253
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Ataxia, Elevated circulating creatine kinase co...	OMIM:615673
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Nail dystrophy	OMIM:614204
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Melanocytic nevus, Hypoplastic ...	ORPHA:978
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia, Pathologi...	OMIM:179800
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Onychauxis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoaci...	OMIM:262190
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration...	OMIM:274150
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Depression, Iron deficiency anemia, H...	OMIM:212750
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Cystathioninuria	Cystathioninemia, Cystathioninuria, Tremor	ORPHA:212
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Omenn Syndrome	Alopecia, Pneumonia, Thickened skin, Thyroiditis, Erythroderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Peroxisome Biogenesis Disorder 3B	Ataxia, Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholeste...	OMIM:266510
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteolysis involvin...	ORPHA:88630
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Nail pits, Premat...	OMIM:127550
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis	ORPHA:329284
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T...	OMIM:614298
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis	OMIM:617475
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Lim...	ORPHA:90153
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Donohue Syndrome	Hypermelanotic macule, Adipose tissue loss, Ovarian cyst, Hyperkeratosis, Nail dysplasia, Acantho...	OMIM:246200
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A...	OMIM:619738
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia	OMIM:164180
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t...	ORPHA:199351
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Progressive neurologic deterioration, Tremor, Limitation of joint mobility, Hypertonia, Type I di...	ORPHA:1192
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,...	ORPHA:96180
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Costello Syndrome	Deep-set nails, Generalized hyperpigmentation, Abnormal fingernail morphology, Concave nail, Abno...	ORPHA:3071
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse hair, Distichiasis, ...	ORPHA:1807
Idiopathic Non-Lupus Full-House Nephropathy	Arthritis, Elevated circulating creatinine concentration, Synovitis	ORPHA:567544
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa...	OMIM:616278
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Abnormality of the anterior pituitary, Coarse hair, Posterior pituitary h...	ORPHA:75389
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Cognitive imp...	OMIM:616795
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Hutchinson-Gilford Progeria Syndrome	Alopecia, Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis	OMIM:176670
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parapare...	OMIM:607483
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Spast...	OMIM:300055
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Ataxia, Hypoglycemia, Abnormal pyramidal sign, Type II diabetes mellitus, Dystonia, Hyp...	ORPHA:453533
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Hypopigmented ...	ORPHA:3453
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Em...	ORPHA:542310
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaund...	OMIM:214900
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Immunodeficiency 23	Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in...	OMIM:615816
Leigh Syndrome	Multiple joint contractures, Progressive neurologic deterioration, Chorea, Choreoathetosis, Neutr...	ORPHA:506
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent upper respirato...	OMIM:600802
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Osteomalacia, Rickets, Tooth abscess	ORPHA:89937
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Trichorrhexis nodosa, Small nail, Recurrent otitis media, Pili torti, Fragile nails, Sp...	OMIM:261990
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ...	ORPHA:221139
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Decreased testicular size, Thin eyebrow	ORPHA:3242
Ataxia With Vitamin E Deficiency	Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy...	ORPHA:96
Leukocyte Adhesion Deficiency, Type Iii	Hepatosplenomegaly, Recurrent bacterial infections, Sepsis, Hepatomegaly	OMIM:612840
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Memory impair...	OMIM:137440
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Paralysis, Respiratory paralysis, Postprandial hyperglycemia, Periodic hypo...	ORPHA:681
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic...	OMIM:614941
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Abnormality of skin pigmentation, Alopecia, Nail dystrophy	OMIM:616353
Bresek Syndrome	Cryptorchidism, Alopecia, Decreased testicular size, Ichthyosis	ORPHA:85284
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening...	OMIM:610984
Combined Oxidative Phosphorylation Deficiency 54	Tremor, Hemiparesis, Hypertonia, Memory impairment, Hyperglycemia	OMIM:619737
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections	OMIM:612783
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Irritability, Glycosuria, Postprandial hyperglycemia	ORPHA:2089
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations	OMIM:313200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia...	ORPHA:70594
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Ataxia	OMIM:618970
Sialidosis Type 2	Inguinal hernia, Ataxia, Tremor, Splenomegaly, Flexion contracture, Osteoporosis, Umbilical hernia	ORPHA:87876
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Fine hair, Premature graying of ha...	OMIM:613990
Gand Syndrome	Sparse hair	OMIM:615074
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Elevated circulating creatinine concentration	OMIM:616733
Gomez-Lopez-Hernandez Syndrome	Alopecia, Ataxia, Craniosynostosis, Depression, Hypertonia, Cognitive impairment	OMIM:601853
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Tremor,...	OMIM:312080
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chroni...	OMIM:240300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H...	OMIM:235400
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ...	ORPHA:567983
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Tremor, Abnormal circulating fatty-acid concentration, Hype...	ORPHA:263455
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Alopecia, Multiple joint contractures, Lack of facial subcutaneous fat, Microcytic an...	ORPHA:2959
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sp...	OMIM:277440
Peroxisome Biogenesis Disorder 5B	Joint laxity, Ataxia, Tremor, Elevated circulating phytanic acid concentration, Dysmetria, Oculom...	OMIM:614867
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint c...	OMIM:175700
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Histiocytosis, Recurrent fractures, ...	ORPHA:168569
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis	ORPHA:457
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Skin rash, Supernumerary nipple, Abnormal hair morpholo...	ORPHA:464
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st...	OMIM:615577
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Recurrent cutaneous fungal ...	ORPHA:477
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Joint stiffness	ORPHA:209335
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyper...	OMIM:124200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Dystonia, Ataxia, Tremor, Thrombocytopenia, Osteoporosis, Abnormal pyramidal sign, Me...	OMIM:612199
Holocarboxylase Synthetase Deficiency	Alopecia, Hyperammonemia, Irritability, Hypertonia, Thrombocytopenia	OMIM:253270
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Hemolytic anemia, Splenomegaly, Loss of eyelashes, Osteolys...	OMIM:263700
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Type II diabetes ...	ORPHA:79095
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:306400
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Palm...	OMIM:106260
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Immunodeficiency 68	Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural killer cell count	OMIM:612260
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur...	OMIM:210000
Werner Syndrome	Sparse scalp hair, Abnormality of retinal pigmentation, Lipodystrophy, Lipoatrophy, Abnormal hair...	ORPHA:902
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Abnormal fear-induced behavior, Irri...	ORPHA:3077
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:613070
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Perry Syndrome	Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function	ORPHA:178509
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot...	ORPHA:48435
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Recurre...	ORPHA:486
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:529665
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Truncal ataxia, Memory impairment	ORPHA:98764
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair	ORPHA:2316
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections, Decreased platelet glycoprotein Ib	OMIM:603585
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Myopathy, Mitochondrial, And Ataxia	Ataxia, Thick hair, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Limb a...	OMIM:617675
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	OMIM:619573
Coach Syndrome 2	Oculomotor apraxia, Elevated circulating creatinine concentration	OMIM:619111
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Ane Syndrome	Alopecia, Lipoatrophy, Anterior pituitary hypoplasia, Decreased response to growth hormone stimul...	ORPHA:157954
Chédiak-Higashi Syndrome	Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc...	ORPHA:167
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Flexion contracture, Slurred speech, Babinski sign, Clumsiness, Poor fine...	ORPHA:137898
Pgm3-Cdg	Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgA level, In...	ORPHA:443811
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Invasive parasitic infection, ...	ORPHA:158048
Kury-Isidor Syndrome	Recurrent otitis media, Alopecia, Hypertrichosis	OMIM:619762
Sneddon Syndrome	Tremor, Atrophic scars, Hemiplegia, Mental deterioration, Lymphopenia	OMIM:182410
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T...	ORPHA:247585
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
C3 Glomerulopathy	Lipodystrophy, Elevated circulating creatinine concentration	ORPHA:329918
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Cheilitis, Conjunctiviti...	ORPHA:37
Glutathionuria	Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor	OMIM:231950
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia	OMIM:607765
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria	OMIM:618857
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal hair mo...	OMIM:208900
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Gout, Abnormality of extrapyramidal motor function...	ORPHA:79233
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia, Increased circulating cortisol level, Osteoporosis, Depression	OMIM:615954
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Tremor	ORPHA:66633
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Mixed Connective Tissue Disease	Alopecia, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivi...	ORPHA:809
Fibrodysplasia Ossificans Progressiva	Progressive cervical vertebral spine fusion, Alopecia, Ectopic ossification in tendon tissue, Ect...	OMIM:135100
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Cryptorchidism, Small nail, Ichthyosis, Cafe-au-lait ...	ORPHA:166035
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Head titubation, Tremor, Rigidity, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Thrombocyt...	OMIM:608104
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Trichotillomania	Alopecia	OMIM:613229
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Ataxia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, D...	OMIM:212065
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Nail dystrophy, Sparse hair, Abnormal toenail morphology, S...	ORPHA:140936
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal circulating serine concentration,...	ORPHA:470
Alstrom Syndrome	Alopecia, Chronic active hepatitis, Decreased response to growth hormone stimulation test, Recurr...	OMIM:203800
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Skin rash, Broad nail, Hepatitis, Cheilitis, Hyperkeratosis, Abno...	ORPHA:1334
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Diabetes mellitus, I...	ORPHA:3163
Ddost-Cdg	Osteopenia, Oromotor apraxia, Lipodystrophy, Tremor	ORPHA:300536
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Lipoatrophy, Limited elbow movement, Joint stiffne...	OMIM:614008
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok...	ORPHA:699
Milroy Disease	Hydrocele testis, Hyperkeratosis, Erysipelas, Toenail dysplasia	ORPHA:79452
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Cryptorchidism, Testicular seminoma, Ichthyosis	ORPHA:281090
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia, Tongue fasciculations	OMIM:619851
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Sweet Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:3243
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Generalized hyperpigmentation, Abnormal eyelash morphology, Cryp...	ORPHA:1340
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes...	ORPHA:29207
Macs Syndrome	Alopecia, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Recurrent aphthous stomatitis, Ichthyos...	OMIM:613075
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypopl...	OMIM:608836
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Abnormal...	ORPHA:765
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Progressive neurologic deterioration, Elevated circulating creatinine concentr...	ORPHA:247691
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Mental deteriorat...	ORPHA:52368
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Gastrointestinal inflammation, Anonychia, Palmoplantar keratoderm...	ORPHA:79410
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Chor...	ORPHA:3464
Bacterial Toxic-Shock Syndrome	Fasciitis, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, Confusion,...	ORPHA:36234
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Osteomalacia, Rickets	OMIM:613388
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, Mental det...	OMIM:300894
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Thick hair, Tremor, Generalized joint laxity, Dysmetria, Depression, Progressive cerebellar ataxi...	ORPHA:502423
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone mineral densi...	ORPHA:79474
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi...	OMIM:241600
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Cryptorchidism, Alopecia, Fine hair	ORPHA:228390
Immunodeficiency 62	Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt...	OMIM:618459
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Decreased te...	OMIM:610644
Fanconi-Bickel Syndrome	Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, General...	ORPHA:2088
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Multiple cafe-au-lait spots, Cryptorchidism, Patchy alopecia, Decreased testicular size	ORPHA:85279
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Eczema, Cryptorchidism, Hyperkeratosis, Loose anagen hair, Long ey...	OMIM:607721
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Hypoplasia of the ovary, Abnormality of the...	ORPHA:3130
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Generalized aminoacidur...	OMIM:227810
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Palmoplantar keratoderma,...	ORPHA:158668
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula...	OMIM:235555
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Paronychia, Irritability, Decreased serum zinc, Emotional lability,...	OMIM:201100
Primary Sclerosing Cholangitis	Acute hepatic failure, Recurrent systemic pyogenic infections, Hepatomegaly, Elevated hepatic tra...	ORPHA:171
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis, Hand tremor, Aminoacid...	OMIM:277900
Cystinosis, Nephropathic	Hyponatremia, Hypopigmentation of hair, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatem...	OMIM:219800
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring ...	ORPHA:35173
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Lipodystrophy, Paralysis, Abnormal eyelash morphology, Rigid...	ORPHA:2396
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets	OMIM:211600
Acquired Aneurysmal Subarachnoid Hemorrhage	Progressive neurologic deterioration, Leukocytosis, Memory impairment, Cognitive impairment, Hype...	ORPHA:90065
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Alopecia, Decreased circulating cortisol level, Severe B lymphocytopenia, Alopecia ...	ORPHA:293978
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat...	OMIM:602347
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia, Hiatus hernia	ORPHA:71272
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Dyskeratosis Congenita	Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, ...	ORPHA:1775
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Reduced natural killer cell activity, Recurrent pneumonia, Impaired ADP-induced pla...	OMIM:608233
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Bone marrow hypocell...	OMIM:301078
Hyperlysinemia	Short attention span, Neck hypertonia, Poor motor coordination, Craniosynostosis, Spastic tetrapa...	ORPHA:2203
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Rothmund-Thomson Syndrome	Plantar hyperkeratosis, Porokeratosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyeb...	ORPHA:2909
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas...	ORPHA:240071
Jaberi-Elahi Syndrome	Appendicular spasticity, Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Tremor,...	OMIM:617988
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi...	ORPHA:97279
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin, Ichthyosis	OMIM:163200
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Spasticity, Brittle hair, Hypocholesterolemia	OMIM:618810
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Chromomycosis	Keratitis, Hyperparakeratosis, Hypopigmented skin patches, Hyperkeratosis, Keratoconjunctivitis s...	ORPHA:182
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Alg12-Cdg	Hyponatremia, Thrombocytopenia, Low posterior hairline, Abnormal bone ossification, Recurrent hyp...	ORPHA:79324
Immunodeficiency 7	Recurrent otitis media, Chronic oral candidiasis, Patchy alopecia, Vitiligo	OMIM:615387
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Ataxia, Acanthocytosis, Upp...	ORPHA:14
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hyperpigmentation of the skin, Recurrent skin infections, Depigmentation/hyperpigmentat...	ORPHA:79396
Pediatric Systemic Lupus Erythematosus	Alopecia, Arthritis, Leukopenia, Microangiopathic hemolytic anemia, Cognitive impairment, Hemiple...	ORPHA:93552
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hyperkeratosis, Nail dysplasia, Trichodysplasia	OMIM:601701
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Joint stiffness, Increased circulating ferritin concentration, Elevated transf...	ORPHA:465508
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma...	ORPHA:79501
Bone Marrow Failure Syndrome 3	Eczema, Pancreatic steatosis, Cryptorchidism, Hyperkeratosis, Hypomelanotic macule, Nail dystroph...	OMIM:617052
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Thick eyebrow	OMIM:611091
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
Beta-Ketothiolase Deficiency	Ataxia, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Extrapyramidal dyskinesia, Hyp...	ORPHA:134
Even-Plus Syndrome	Sparse hair, Synophrys, Highly arched eyebrow	OMIM:616854
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Progressive Supranuclear Palsy	Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impairment, Dyston...	ORPHA:683
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ...	OMIM:242840
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Recurrent bacterial infections, Decreased circulating antibody level	OMIM:248500
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Johanson-Blizzard Syndrome	Alopecia, Diabetes mellitus, Abnormal hair pattern, Hypoproteinemia, Anemia	ORPHA:2315
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia	OMIM:226600
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Decreased circulating ...	ORPHA:51636
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Eec Syndrome	Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Keratit...	ORPHA:1896
Woodhouse-Sakati Syndrome	Alopecia, Diabetes mellitus, Hyperlipidemia, Fine hair, Choreoathetosis, Abnormality of extrapyra...	OMIM:241080
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia, Hyperammonemia, Progressive neurologic deterioration	OMIM:615453
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H...	ORPHA:79430
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Tetanus	Stiff neck, Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, H...	ORPHA:3299
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Atopic dermatitis, Low posterior...	OMIM:115150
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Head titubation, Tremor, Flexion contr...	ORPHA:99027
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypomagnesemia	OMIM:248190
3-Methylglutaconic Aciduria, Type Viib	Dystonia, Ataxia, Neonatal hypoglycemia, Tremor, Flexion contracture, Opisthotonus, Choreoathetos...	OMIM:616271
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair	OMIM:608154
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Arthritis, Vocal cord paralysis, Mildly elevated creatine kinase	ORPHA:397744
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile...	ORPHA:562639
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Cryptorchidism, Lipoma, Multiple central nervous system lipom...	OMIM:613001
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Bilateral cryptorchidism, Absent e...	ORPHA:544488
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Arthritis, B lymphocytopenia, T lymphocytopenia	OMIM:601457
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Hypertriglyceridemia, Ataxia, Abnormal granulocyte morphology, Abnormal circulating cre...	ORPHA:98907
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches	ORPHA:1647
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Inguinal hernia, Elevated circulating creatinine concentration, Supernumerary nipple	OMIM:614376
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Tremor, Abno...	ORPHA:3008
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis	ORPHA:36386
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:168600
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail	ORPHA:621
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Small nail, Ortho...	OMIM:308050
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Sparse eyebrow, Cryptorc...	ORPHA:2232
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl	ORPHA:2872
Systemic Sclerosis	Alopecia, Pericarditis, Osteomyelitis, Nail bed telangiectasia, Glomerulonephritis, Recurrent ski...	ORPHA:90291
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Hemiparesis, Leukopenia, Hypertonia, Absent fingernail, S...	ORPHA:974
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Hyperkeratosis, Interstitial pneumonitis, Hypopigmentation ...	ORPHA:454831
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Thick hair, Onychauxis, Insulin ...	ORPHA:769
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Ventral hernia, Alopecia, Hypertriglyceridemia, Widened atrophic scar, Inguinal herni...	ORPHA:536532
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hypertrichosis	OMIM:266270
Limb-Mammary Syndrome	Alopecia, Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis	ORPHA:163525
Short Syndrome	Joint laxity, Inguinal hernia, Lipoatrophy, Lipodystrophy, Insulin resistance, Absence of subcuta...	OMIM:269880
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Recurrent bacterial infections, Hype...	OMIM:232220
Relapsing Polychondritis	Episcleritis, Alopecia, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve...	ORPHA:728
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderm...	ORPHA:363618
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Rothmund-Thomson Syndrome Type 1	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, A...	ORPHA:221008
Hypomagnesemia 3, Renal	Hyperuricemia, Hypomagnesemia	OMIM:248250
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Cellulitis, Neutropenia, Hepatosplenomegaly, Leukop...	OMIM:618986
Xeroderma Pigmentosum	Alopecia, Hypermelanotic macule, Keratitis, Cryptorchidism, Thickened skin, Hypopigmented skin pa...	ORPHA:910
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Depression, Bradykinesia, Dystonia	OMIM:168605
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Hemolytic anemia, Sy...	OMIM:619503
Hypocomplementemic Urticarial Vasculitis	Recurrent bacterial infections, Meningitis, Hepatomegaly	ORPHA:36412
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti...	ORPHA:25
Young-Onset Parkinson Disease	Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia...	ORPHA:2828
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Sparse eyelashes, Absence of Stensen duct, Decreased response to growth hormon...	OMIM:604292
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Localized Scleroderma	Abnormal skin adnexa morphology, Fasciitis, Thickened skin, Hypopigmented skin patches, Uveitis, ...	ORPHA:90289
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia	ORPHA:98791
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Decreased testicula...	OMIM:620040
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches	ORPHA:2067
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm...	OMIM:150550
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Cafe-au-lait spot, Hyperpigmentation ...	OMIM:616564
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Autoimmune Polyendocrinopathy Type 4	Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Anterior pituitary dysgenesis, Chronic mu...	ORPHA:227990
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Sepsis, Recurrent bacterial infec...	OMIM:617053
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity	OMIM:176500
Autoimmune Polyendocrinopathy Type 3	Alopecia, Atrophic gastritis, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Anterior p...	ORPHA:227982
Sickle Cell Disease	Recurrent bacterial infections, Jaundice, Cholelithiasis, Hepatomegaly	OMIM:603903
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Cafe-au-lait ...	OMIM:605275
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia	OMIM:307800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Cryptorchidism, Follicular hyperkeratosis	ORPHA:486815
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Autoinflammation With Arthritis And Dyskeratosis	Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke...	OMIM:617388
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis, Sparse hair	OMIM:601812
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia	ORPHA:542323
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism, Testicular adrenal rest tumor, Polycystic ovaries, Hyperpigmentation o...	ORPHA:90795
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Absence of Stensen duct, Decreased response to growth hormone stimulation test...	OMIM:129900
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis	OMIM:269200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Confusion, Megaloblastic anemia, Tremor, Cystathioninu...	OMIM:277400
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Absent eyebrow, Alopecia, Sparse scalp hair, Subungual hyperkeratosis, E...	OMIM:308205
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Lymphopenia, B lymphocytopenia	ORPHA:277
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:224900
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ...	OMIM:268400
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Rothmund-Thomson Syndrome Type 2	Calcinosis, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Alopecia totalis, A...	ORPHA:221016
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Mogs-Cdg	Alopecia, Hydrocele testis, Long eyelashes, Fair hair, Hirsutism	ORPHA:79330
Tetrasomy 12P	Sparse hair, Sparse eyebrow	ORPHA:884
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis	OMIM:620014
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia, Thrombocyto...	ORPHA:391673
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis	OMIM:612852
Leprosy	Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Uveitis, Hyperkeratosis, Iritis, Sp...	ORPHA:548
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Dementia, Oculomotor apraxia	ORPHA:240094
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Emotional lability, Incoordination, Elevated circulating creatinine concentration, Increased bloo...	OMIM:223900
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Hyperkeratosis, Pilomatrixoma, Multinodular goiter	OMIM:620189
Focal Dermal Hypoplasia	Omphalocele, Alopecia, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:2092
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Diabetes mellitus, Ataxia, Elevated circulating creatine kinase concentration, Tr...	ORPHA:254892
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline	OMIM:617883
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Normochromic anemia, Alopecia totalis, Elevated circulating creatine kinase con...	OMIM:618775
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline	ORPHA:284180
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Chylomicron Retention Disease	Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, Sparse hair, Bre...	OMIM:230740
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchidism, Uveitis,...	ORPHA:2108
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Elevated hepatic transaminase...	ORPHA:586
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce...	OMIM:619705
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Erythroderma	OMIM:609180
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Inflammation of the large intestine	OMIM:614576
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni...	OMIM:302960
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent viral infections, Sepsis, Hypoamylasemia, ...	ORPHA:811
Serotonin Syndrome	Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D...	ORPHA:43116
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Short eyelashes, Dystrophic fingernails, Sparse body hair, Dys...	OMIM:150400
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Tick-Borne Encephalitis	Speech apraxia, Stiff neck, Incoordination, Elevated circulating C-reactive protein concentration...	ORPHA:297
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomega...	OMIM:612541
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Truncal titubation, Tremor, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Fucosidosis	Lipoatrophy, Generalized hyperkeratosis, Abnormality of the nail	ORPHA:349
Giant Cell Arteritis	Arthritis, Alopecia, Pericarditis	ORPHA:397
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Ataxia, Tarsal synostosis, Abnormal dental enamel morphology, Tremor, Red...	ORPHA:2750
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Irritability, Glucose intolerance, Hypertonia, Gl...	OMIM:616539
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ...	OMIM:616084
Activated Pi3K-Delta Syndrome	Splenomegaly, Arthritis, B lymphocytopenia	ORPHA:397596
Hawkinsinuria	Sparse hair	OMIM:140350
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Fibrous dysplasia of the bones, Rickets, O...	ORPHA:249
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Juvenile Dermatomyositis	Alopecia, Pericarditis, Skin rash, Myositis, Arthritis	ORPHA:93672
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline	OMIM:615510
46,Xy Sex Reversal 4	Distal symphalangism, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele...	ORPHA:355
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail	OMIM:619721
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Acute myeloid leukemia, Sparse eyelashes, Pancytopenia, Ataxia...	OMIM:305000
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum	ORPHA:493
Dyskeratosis Congenita, Autosomal Recessive 8	Sparse scalp hair, Pancytopenia, B lymphocytopenia, Nail dystrophy, Bone marrow hypocellularity, ...	OMIM:620133
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Linear Nevus Sebaceus Syndrome	Alopecia, Adenoma sebaceum, Irregular hyperpigmentation, Melanocytic nevus	ORPHA:2612
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Abnormality of dermal melanosomes, Hypopl...	ORPHA:73223
Joubert Syndrome 37	Sparse hair	OMIM:619185
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibr...	ORPHA:562
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Kindler Epidermolysis Bullosa	Recurrent skin infections, Cheilitis, Abnormality of skin pigmentation, Hyperkeratosis, Inflammat...	ORPHA:2908
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair	OMIM:618253
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Malar rash, Serositis	ORPHA:536
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair	OMIM:268020
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Flexion contracture, Hypochromic microcytic anemia, Steatorrhea, Postprandial hy...	ORPHA:440713
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, ...	OMIM:251100
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Gout	OMIM:174000
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, Alopecia of scalp, B lymphocytopenia, Abnormal...	OMIM:602450
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me...	OMIM:615530
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Niemann-Pick Disease Type C	Bone-marrow foam cells, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal ...	ORPHA:646
Immunodeficiency 92	Osteomyelitis, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytop...	OMIM:619652
Chime Syndrome	Sparse hair, Ichthyosis, Hyperkeratosis, Fine hair	ORPHA:3474
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Mercury Poisoning	Tremor, Hypokalemia, Confusion, Dystonia	ORPHA:330021
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Brittle hair, Ataxia, Hypoglycemia, Depression, Aminoaciduria, Recurrent hypogl...	OMIM:124000
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Nail dystrophy, Abnormality of the nail, Sparse body hair, Genera...	ORPHA:678
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir...	OMIM:137920
Leprechaunism	Reduced subcutaneous adipose tissue, Enlarged ovaries, Thickened skin, Acanthosis nigricans, Hype...	ORPHA:508
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Primary Ciliary Dyskinesia	Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections	ORPHA:244
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypertriglyceridemia, Hyperl...	ORPHA:79259
Dubowitz Syndrome	Sparse scalp hair, Short attention span, Inguinal hernia, Aplastic anemia, Acute lymphoblastic le...	OMIM:223370
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Eczema, Cry...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Testicular neoplasm, Eczema, Cry...	ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Babinski sign, Flexion contracture, Lower limb hypertonia, Patchy alopecia, Low frustration toler...	OMIM:300534
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis	ORPHA:2583
Cutis Laxa, Autosomal Recessive, Type Iiia	Sparse hair	OMIM:219150
Sympathetic Ophthalmia	Vitiligo, Alopecia, Posterior uveitis, Poliosis	ORPHA:79098
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Absence of subcut...	OMIM:620005
Ruijs-Aalfs Syndrome	Premature graying of hair, Sparse hair	OMIM:616200
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Vertebral hy...	ORPHA:89936
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi...	ORPHA:411634
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Tangier Disease	Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Nail dystrophy, Hypocholesterolemia, ...	ORPHA:31150
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair	OMIM:614091
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co...	OMIM:609069
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe...	OMIM:264090
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Vaginal hydrocele...	ORPHA:2035
Unilateral Polymicrogyria	Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb...	ORPHA:268943
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Cystinosis	Rickets	ORPHA:213
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse hair, Nail dysplasia, Sparse eyelashes, Sparse eyebrow	OMIM:613026
Autoinflammatory Disease, Systemic, X-Linked	Osteomyelitis, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia	OMIM:301081
Dent Disease	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Sting-Associated Vasculopathy, Infantile-Onset	Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema	OMIM:615934
Aicardi-Goutières Syndrome	Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Lipoatrophy, Neonatal al...	ORPHA:51
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ...	OMIM:615485
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:608013
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Alopecia, Abnormally ossified vertebrae, Osteomalacia, Rigidity, Loss of eyelashes, O...	ORPHA:2636
Leukocyte Adhesion Deficiency	Recurrent urinary tract infections, Recurrent staphylococcal infections, Impaired neutrophil chem...	ORPHA:2968
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Low anterior hairline, Retic...	ORPHA:124
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the wrist, Toe dactylitis, Abnormality of tumor necrosis factor...	ORPHA:85436
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Chronic Graft Versus Host Disease	Alopecia, Fasciitis, Thickened skin, Urinary bladder inflammation, Bronchiectasis, Abnormality of...	ORPHA:99921
Steinert Myotonic Dystrophy	Short attention span, Alopecia, Diabetes mellitus, Early balding, Insulin resistance, Hyperinsuli...	ORPHA:273
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Scarf Syndrome	Sparse hair, Hypoplastic nipples, Low posterior hairline	ORPHA:3134
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Bilateral cryptorchidism, Absent e...	OMIM:263650
Scorpion Envenomation	Hemifacial spasm, Increased circulating NT-proBNP concentration, Ataxia, Tremor, Glycosuria, Hypo...	ORPHA:466677
Meige Disease	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Recurrent skin infections	ORPHA:90186
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Craniosynostosis, Abnormality of hair texture, Tremor, Splenomegaly, Reduced...	ORPHA:667
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen...	ORPHA:391487
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Dystonia, Ataxia, Hypoglycemia, Highly arched eyebrow, Tremor, Low anterior hair...	OMIM:220111
Kikuchi-Fujimoto Disease	Alopecia, Ataxia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Spleno...	ORPHA:50918
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Sparse eyebrow, Hypocholesterolemia	OMIM:244450
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Papillorenal Syndrome	Joint laxity, Elevated circulating creatinine concentration	OMIM:120330
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone marrow hyp...	ORPHA:508542
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Paronychia, Osteoporosis, Abnormal blood ion concentration, Nail dystrophy, Enamel hypo...	ORPHA:79404
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Congenital Disorder Of Glycosylation, Type Iia	Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism	OMIM:212066
Ullrich Congenital Muscular Dystrophy 1	Follicular hyperkeratosis	OMIM:254090
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Leukocytosis, Alopecia, Flexion contracture	OMIM:619321
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha...	ORPHA:2710
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Scarf Syndrome	Sparse hair, Low anterior hairline, Hypoplastic nipples, Low posterior hairline	OMIM:312830
Cardiogenic Shock	Elevated circulating creatinine concentration, Confusion	ORPHA:97292
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Orofaciodigital Syndrome I	Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Sparse hair	OMIM:311200
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment	OMIM:146500
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Fine hair, Pyelonephritis, Multiple lipo...	OMIM:181270
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retro...	OMIM:601104
Autosomal Recessive Robinow Syndrome	Alopecia, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Chronic otitis media	ORPHA:1507
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Bloom Syndrome	Sparse eyelashes, Pneumonia, Skin rash, Adipose tissue loss, Paronychia, Cheilitis, Uveitis, Patc...	ORPHA:125
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Oligomeganephronia	Elevated circulating creatinine concentration, Congenital diaphragmatic hernia	ORPHA:2260
Marshall Syndrome	Sparse hair, Sparse eyelashes, Sparse eyebrow	ORPHA:560
Hemorrhagic Fever-Renal Syndrome	Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr...	ORPHA:340
African Trypanosomiasis	Alopecia, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Splenomegaly...	ORPHA:3385
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Osteoporosis, Hyperin...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Osteoporosis, Hyperin...	ORPHA:99228
Monosomy X	Osteopenia, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Osteoporosis, Hyperin...	ORPHA:99226
Turner Syndrome	Osteopenia, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Osteoporosis, Hyperin...	ORPHA:881
Cranioectodermal Dysplasia 3	Sparse hair, Short nail, Broad nail, Fine hair	OMIM:614099
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair	ORPHA:357074
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair	OMIM:616449
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Glass Syndrome	Sparse hair, Long eyelashes, Nail dysplasia	OMIM:612313
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Bilateral cryptorchidism, Keratitis, Conjunctivitis	OMIM:278800
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Absent eyebrow, Alopecia totalis, Joint stiffness, Limited wris...	ORPHA:740
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti...	OMIM:619381
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Ataxia, Glycosuria, Lower-limb joint contracture, A...	ORPHA:99885
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Cryptorchidism, Long eyelashes, Fingernail dysplasia, Ridged fingernai...	ORPHA:3107
White-Sutton Syndrome	Sparse hair	OMIM:616364
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Weaver Syndrome	Sparse hair, Thin nail, Deep-set nails, Fine hair	OMIM:277590
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:234100
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ...	OMIM:601358
Phakomatosis Pigmentokeratotica	Hypophosphatemic rickets, Patchy alopecia, Hemiparesis	ORPHA:2874
Down Syndrome	Sparse hair	ORPHA:870
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sparse hair, Synophrys, Toenail dysplasia, Hirsutism	OMIM:300966
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Ectodermal Dysplasia And Immunodeficiency 2	Sparse hair, Aplasia of the sweat glands, Sparse scalp hair	OMIM:612132
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai...	ORPHA:444077
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Nail dysplasia, Breast hypoplasia, Small nail	OMIM:614813
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Rickets, Reduced bone mineral density, ...	OMIM:613658
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections	ORPHA:99104
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Joint hyperflexibility, Synostosis o...	ORPHA:198
Sarcoidosis	Hemolytic anemia, Alopecia, Hypercalcemia, Eosinophilia, Scarring, Thrombocytopenia, Increased T ...	ORPHA:797
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair	OMIM:615349
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Fine hair, Hyperkeratosis, S...	OMIM:210710
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Seborrheic dermatitis, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Ovari...	ORPHA:276280
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair	OMIM:616541
Agel Amyloidosis	Sparse hair, Nail dystrophy	ORPHA:85448
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Smith-Lemli-Opitz Syndrome	Splenomegaly, Epiphyseal stippling, Hypertonia, Hypoalbuminemia, Elevated circulating 7-dehydroch...	OMIM:270400
Opitz-Kaveggia Syndrome	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:305450
Ring Chromosome 13 Syndrome	Abnormality of skin pigmentation, Alopecia, Hypoplasia of the gallbladder, Cafe-au-lait spot	ORPHA:96176
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Generalized hyperpigmentation, Central h...	ORPHA:744
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Cowden Syndrome	Enlarged polycystic ovaries, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratode...	ORPHA:201
Combined Immunodeficiency-Enteropathy Spectrum	Sparse hair, Absent eyebrow, Alopecia of scalp, Nail dystrophy	ORPHA:436252
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis	OMIM:602535
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Mosaic Variegated Aneuploidy Syndrome 2	Sparse hair	OMIM:614114
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Increased circulating ferritin concen...	OMIM:619534
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections	ORPHA:99103
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline	OMIM:613563
Monosomy 22	Sparse hair, Synophrys	ORPHA:96123
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
De Barsy Syndrome	Sparse hair	ORPHA:2962
Oculocerebrorenal Syndrome Of Lowe	Recurrent fractures, Osteomalacia, Joint stiffness, Thrombocytopenia, Joint hyperflexibility, Art...	ORPHA:534
Stuve-Wiedemann Syndrome 1	Sparse hair	OMIM:601559
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Intellectual Developmental Disorder, Autosomal Dominant 54	Sparse hair, Thin nail	OMIM:617799
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Depression, Emotional lability, Hyperglycemia	ORPHA:293987
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Sparse hair	OMIM:252500
Cranioectodermal Dysplasia 1	Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair	OMIM:218330
Fabry Disease	Hyperkeratosis, Arthritis	ORPHA:324
Restrictive Dermopathy 1	Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Absent eyelashes, Sparse eyebrow, Aplasia...	OMIM:275210
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le...	ORPHA:449395
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow	OMIM:280000
Kyphoscoliotic Ehlers-Danlos Syndrome	Synophrys, Follicular hyperkeratosis	ORPHA:536545
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia	ORPHA:432
Scalp-Ear-Nipple Syndrome	Sparse hair, Breast aplasia, Abnormal fingernail morphology	ORPHA:2036
Cartilage-Hair Hypoplasia	Sparse hair, Sparse eyebrow	ORPHA:175
Agammaglobulinemia, X-Linked	T lymphocytopenia, B lymphocytopenia, Neutropenia, Septic arthritis, Anemia	OMIM:300755
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Vascular Ehlers-Danlos Syndrome	Alopecia, Inguinal hernia, Abnormality of hair texture, Abnormal eyelash morphology, Osteoarthrit...	ORPHA:286
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair	OMIM:300661
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ...	OMIM:619841
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Rickets, Pathologic fracture, Joint contracture of the han...	OMIM:309000
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Cockayne Syndrome B	Sparse hair, Dry hair, Abnormal hair morphology	OMIM:133540
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Sparse eyebrow, Hypoplastic nipples, Small nail, Nail dystrophy, Sparse hair	OMIM:620186
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Follicular hyperkeratosis	OMIM:225400
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Cryptorchidism, Reticu...	OMIM:305600
Cranioectodermal Dysplasia 2	Sparse hair, Sparse eyelashes, Sparse eyebrow	OMIM:613610
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Viss Syndrome	Sparse scalp hair, Alopecia, Chronic gastritis, Eczema, Atopic dermatitis, Hirsutism	OMIM:619472
Cockayne Syndrome A	Sparse hair, Dry hair	OMIM:216400
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis	OMIM:614557
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Lenz-Majewski Hyperostotic Dwarfism	Sparse hair	OMIM:151050
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic nipples, Sparse hair, Hypoplastic fingernail	OMIM:200110
Heart Defects, Congenital, And Other Congenital Anomalies	Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap...	OMIM:600001
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse hair, Nail dystrophy, Sparse eyebrow	OMIM:619127
Roberts Syndrome	Sparse hair	ORPHA:3103
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sparse hair, Frontal hirsutism	OMIM:617157
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Thick eyebrow, Sparse hair, Alopecia of scalp, Fragile nails	OMIM:150230
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Synophrys, Sparse hair, Hirsutism, Aplasia/Hypoplasia of the nails	ORPHA:3455
Lipodystrophy, Familial Partial, Type 7	Sparse hair, Sparse scalp hair	OMIM:606721
Warburg-Cinotti Syndrome	Follicular hyperkeratosis	OMIM:618175
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Wrinkly Skin Syndrome	Sparse hair, Short nail, Fragile nails	OMIM:278250
Branchiooculofacial Syndrome	Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h...	OMIM:113620
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica...	ORPHA:51608
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Palmoplantar keratoderma	ORPHA:2198
Wrinkly Skin Syndrome	Sparse hair	ORPHA:2834
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Synophrys, Absent axillary hair, Dystrophic fingernails, S...	OMIM:259050
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections	ORPHA:642
Roberts-Sc Phocomelia Syndrome	Sparse hair	OMIM:268300

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rhbdf2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rhbdf2.

There are 9 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice.	Journal of cell science (July 2023)	Rhbdf2^{tm1b(KOMP)Wtsi}	37282854
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.	Nature immunology (December 2021)	Rhbdf2^{tm1b(KOMP)Wtsi}	34937930
The pseudoprotease iRhom1 controls ectodomain shedding of membrane proteins in the nervous system.	FASEB journal : official publication of the Federation of American Societies for Experimental Biology (November 2021)	Rhbdf2^{tm1b(KOMP)Wtsi}	34613632
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Rhbdf2^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Rhbdf2^{em1(IMPC)Wtsi}	PMC6671969
iRhom2 is essential for innate immunity to RNA virus by antagonizing ER- and mitochondria-associated degradation of VISA.	PLoS pathogens (November 2017)	Rhbdf2^{tm1a(KOMP)Wtsi} Rhbdf2^{tm1b(KOMP)Wtsi}	PMC5722342
iRhom2 is essential for innate immunity to DNA viruses by mediating trafficking and stability of the adaptor STING.	Nature immunology (July 2016)	Rhbdf2^{tm1a(KOMP)Wtsi}	27428826
Rhbdf2 mutations increase its protein stability and drive EGFR hyperactivation through enhanced secretion of amphiregulin.	Proceedings of the National Academy of Sciences of the United States of America (May 2014)	Rhbdf2^{tm1a(KOMP)Wtsi}	PMC4040562
iRhom2 is required for the secretion of mouse TNFα.	Blood (May 2012)	Rhbdf2^{tm1a(KOMP)Wtsi}	PMC3382936

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MGI Allele	Allele Type	Produced
Rhbdf2^{em1(IMPC)Wtsi}	Point Mutation	Mice
Rhbdf2^{tm1b(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Rhbdf2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Rhbdf2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rhbdf2 MGI:2442473

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Rhbdf2 mutations

Histopathology

IMPC related publications

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