Gene Summary

Name:
SRY (sex determining region Y)-box 18
Synonyms:
Sry-related HMG-box gene 18,  Ragl

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Sox18tm1.1(KOMP)Vlcg HOM   Early adult 2.50×10-06
increased circulating alkaline phosphatase level Sox18tm1.1(KOMP)Vlcg HOM Early adult 8.82×10-07
decreased thigmotaxis Sox18tm1.1(KOMP)Vlcg HOM   Early adult 2.50×10-06
increased mean corpuscular hemoglobin Sox18tm1.1(KOMP)Vlcg HOM Early adult 7.47×10-05
increased circulating sodium level Sox18tm1.1(KOMP)Vlcg HOM Early adult 9.60×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote 100% (2 of 2)
Bone marrow N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote 100% (2 of 2)
Brown adipose tissue N/A heterozygote 100% (2 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 100% (2 of 2)
Cerebral cortex N/A heterozygote 100% (2 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote 100% (2 of 2)
Hypothalamus N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 100% (2 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thalamus N/A heterozygote 100% (2 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 100% (2 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 50% (1 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 50% (1 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous
Vibrissa N/A heterozygote 100% (1 of 1)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
vibrissa Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

12 Images

Adult LacZ

LacZ Images Section

41 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Sox18 mutations

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

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

The table below shows human diseases associated to Sox18 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Pleural effusion, Absen... ORPHA:69735
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Nonimmune hydrops... OMIM:607823
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Lymphedema, Sparse eyelashes, Absent eyelashes, Nonimmune hydrops fetalis, Absent eyebr... OMIM:137940

The table below shows human diseases predicted to be associated to Sox18 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypotrichosis 15
Sparse scalp hair OMIM:620177
Pili Gemini
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Ab... ORPHA:79492
Hypotrichosis 1
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... OMIM:605389
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Angioedema Induced By Ace Inhibitors, Susceptibility To
Angioedema OMIM:300909
Hypotrichosis 2
Abnormality of the nail, Sparse scalp hair OMIM:146520
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Hypotrichosis 10
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair OMIM:614238
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Woolly Hair, Autosomal Recessive 3
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair OMIM:616760
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair ORPHA:505
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Angioma Serpiginosum, X-Linked
Sparse hair, Nail dystrophy, Fine hair OMIM:300652
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair OMIM:620199
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... OMIM:617294
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Ascites, Chylous
Chylous ascites OMIM:208300
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... ORPHA:1808
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Edema ORPHA:345
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Aredyld
Generalized hypotrichosis OMIM:207780
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy
Hypertrichosis OMIM:620470
Hypertrichosis, Congenital Generalized, 2
Hirsutism, Congenital, generalized hypertrichosis OMIM:307150
Trichodysplasia-Xeroderma Syndrome
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... ORPHA:3361
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair OMIM:601553
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Lipedema
Edema OMIM:614103
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Woolly hair, Sparse hair OMIM:278200
Hair Defect With Photosensitivity And Impaired Intellectual Development
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair OMIM:234030
Ectodermal Dysplasia 5, Hair/Nail Type
Dystrophic fingernails, Absent toenail, Sparse scalp hair OMIM:614927
Monilethrix
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair OMIM:158000
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands, Nail bed hemorrhage, Nailfold capillary t... OMIM:619361
Tooth Agenesis, Selective, 8
Sparse eyebrow, Sparse hair OMIM:617073
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Hypotrichosis 7
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... OMIM:604379
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Acrocyanosis, Death in childhood OMIM:302000
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Hypotrichosis 14
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes OMIM:618275
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Irregular hyperpigmentation of ... ORPHA:1818
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Hypotrichosis 13
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes OMIM:615896
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Palmoplantar Keratoderma And Woolly Hair
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair OMIM:616099
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair OMIM:211390
Hypotrichosis 9
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... OMIM:614237
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Ectodermal Dysplasia 9, Hair/Nail Type
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... OMIM:614931
Hairy Elbows
Elbow hypertrichosis OMIM:139600
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... OMIM:117850
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... ORPHA:1008
Monilethrix
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... ORPHA:573
Witkop Syndrome
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... OMIM:189500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Pleural effusion, Absen... ORPHA:69735
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... ORPHA:444
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Ascite... ORPHA:2198
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Hypotrichosis 12
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... OMIM:615885
Hypotrichosis 6
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair OMIM:607903
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Trichodental Dysplasia
Sparse hair, Slow-growing hair, Fine hair, Brittle hair OMIM:601453
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Nephrosialidosis
Ascites, Pericardial effusion, Death in childhood OMIM:256150
L-Ferritin Deficiency
Alopecia OMIM:615604
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Chylous Ascites
Ascites, Abnormal intestine morphology, Lymphedema ORPHA:1160
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Hydrops fetalis ORPHA:295
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Alpha-Heavy Chain Disease
Ascites, Hepatomegaly, Alopecia, Splenomegaly ORPHA:100025
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Ectodermal Dysplasia 4, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... OMIM:602032
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Nail pits, Ridged nail, Nail dystrophy OMIM:601705
Candidiasis, Familial, 1
Alopecia OMIM:114580
Hypotrichosis 5
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... OMIM:612841
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Alopecia, Nail dystrophy OMIM:616487
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair OMIM:129490
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Alopecia of scalp ORPHA:79129
Pili Torti
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... ORPHA:2889
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Hypernatremia, Irritability OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Hypernatremia, Irritability OMIM:304800
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai... OMIM:104100
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty... ORPHA:79133
Kondoh Syndrome
Sparse hair, Thick eyebrow, Widow's peak OMIM:606242
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:619462
Trichothiodystrophy 9, Nonphotosensitive
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy OMIM:619692
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail... ORPHA:2251
Uncombable Hair Syndrome 3
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair OMIM:617252
Choroidal Atrophy-Alopecia Syndrome
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... ORPHA:1433
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Cardiomyopathy, Familial Restrictive, 6
Ascites, Hepatomegaly, Hydrops fetalis, Death in infancy OMIM:619433
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia OMIM:143860
Bazex-Dupré-Christol Syndrome
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... ORPHA:113
Hidrotic Ectodermal Dysplasia, Halal Type
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... ORPHA:1809
Pseudomyxoma Peritonei
Ascites, Inflammation of the large intestine, Hernia, Intestinal obstruction ORPHA:26790
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Oliver-Mcfarlane Syndrome
Alopecia, Pigmentary retinopathy, Central heterochromia, Long eyelashes, Long eyebrows, Sparse hair OMIM:275400
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Ectodermal Dysplasia 7, Hair/Nail Type
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... OMIM:614929
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Hepat... OMIM:607624
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Anasarca, Volvulus, Lymphe... ORPHA:90363
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Irritability, Reduced blood urea nitrogen, Decre... OMIM:300539
Rothmund-Thomson Syndrome, Type 1
Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair, Cafe-au-lait spot OMIM:618625
Kerion Celsi
Alopecia ORPHA:499
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:1006
Lymphangiectasia, Intestinal
Abnormal hair morphology, Malabsorption, Stillbirth, Edema, Pedal edema OMIM:152800
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... OMIM:613102
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Focal Facial Dermal Dysplasia 3, Setleis Type
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline OMIM:227260
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramni... ORPHA:1041
Hypotrichosis 3
Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca... OMIM:613981
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair OMIM:618535
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios, Inflammation of the large intestine, Secretory diarrhea, Abdominal distention OMIM:616868
Schopf-Schulz-Passarge Syndrome
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr... OMIM:224750
Intestinal Dysmotility Syndrome
Decreased intestinal transit time, Diarrhea, Projectile vomiting, Abdominal distention, Polyhydra... OMIM:620045
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Nonimmune hydrops... OMIM:607823
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm... ORPHA:79402
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620126
Infantile Sialic Acid Storage Disease
Hypopigmentation of the skin, Fair hair, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:269920
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypernatremia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elev... ORPHA:94093
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Woolly Hair, Autosomal Dominant
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... OMIM:194300
Hawkinsinuria
Sparse hair, Fine hair ORPHA:2118
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:620125
Congenital Pulmonary Lymphangiectasia
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium ORPHA:2414
Central Diabetes Insipidus
Hyponatremia, Depression, Polydipsia, Anorexia ORPHA:178029
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Dermoodontodysplasia
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Ectodermal dysplasia,... ORPHA:1660
Ectodermal Dysplasia/Skin Fragility Syndrome
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar... OMIM:604536
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... ORPHA:248
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Pseudopelade Of Brocq
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... ORPHA:129
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Nausea and vomiting, Hirsutism, P... ORPHA:64739
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp ORPHA:346
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Focal Segmental Glomerulosclerosis 1
Ascites, Pleural effusion, Edema OMIM:603278
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... OMIM:602400
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Ovarian Fibrothecoma
Ascites, Pleural effusion, Hirsutism, Abdominal distention, Abdominal pain ORPHA:314478
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, White hair, Premature grayin... ORPHA:381
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Porphyria Due To Ala Dehydratase Deficiency
Depression, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentr... ORPHA:100924
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Congenital Short Bowel Syndrome
Intestinal malrotation, Sparse hair, Lipoatrophy, Intestinal hypoplasia ORPHA:2301
Gonadoblastoma
Abdominal pain, Abdominal distention, Hirsutism ORPHA:206484
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Nephrogenic Diabetes Insipidus
Polydipsia, Hypernatremia, Anorexia ORPHA:223
Glucose-Galactose Malabsorption
Hypercalcemia, Hypernatremia ORPHA:35710
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... OMIM:613573
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin ORPHA:2985
Clouston Syndrome
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... OMIM:129500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Achondrogenesis, Type Ib
Stillbirth, Abdominal distention, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Fg Syndrome 3
Fine hair, Frontal upsweep of hair, Death in infancy, Chronic constipation, Sparse hair, Feeding ... OMIM:300406
Cardiofaciocutaneous Syndrome 2
Sparse hair, Absent eyebrow, Fine hair, Curly hair OMIM:615278
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma citrulline, Hype... OMIM:615751
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair ORPHA:1810
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly ORPHA:890
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypernatremia, Hyperglycinemia, Irritability, Impulsivity, Hyperactivity, Thrombocytopenia, Agita... OMIM:620423
Congenital Pancreatic Cyst
Vomiting, Abdominal distention, Abdominal pain, Anorexia, Jaundice ORPHA:313906
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Long eyelashes, Alopecia, Sparse hair, Pigmentary retinopathy ORPHA:3363
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... OMIM:262000
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Pyruvate Carboxylase Deficiency
Abnormal temper tantrums, Neonatal hyperbilirubinemia, Recurrent hand flapping, Hyperammonemia, H... ORPHA:3008
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Diffuse Neonatal Hemangiomatosis
Ascites, Hepatomegaly, Hydrops fetalis, Polyhydramnios ORPHA:2123
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Splenomegaly, Sparse eyelashes, Scarring alopecia of scalp, Hep... ORPHA:59303
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Epidermolysis Bullosa, Junctional 5A, Intermediate
Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych... OMIM:619816
Sialidosis Type 2
Umbilical hernia, Ascites, Splenomegaly, Inguinal hernia, Hepatomegaly, Flexion contracture, Hydr... ORPHA:87876
Schöpf-Schulz-Passarge Syndrome
Alopecia, Facial telangiectasia, Ectodermal dysplasia, Aplasia/Hypoplasia of the eyebrow, Sparse ... ORPHA:50944
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Ectodermal dysplasia, Constipation OMIM:273390
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:610600
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia OMIM:620152
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly ORPHA:1046
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Abnormality of retinal pigmentation, Uncombable hair ORPHA:1264
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... ORPHA:2890
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Adiposis Dolorosa
Painful subcutaneous lipomas, Constipation, Abdominal distention OMIM:103200
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair ORPHA:1882
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to... ORPHA:2325
Cortisone Reductase Deficiency 1
Alopecia, Hirsutism OMIM:604931
Wolman Disease
Acute hepatic failure, Vomiting, Death in infancy, Abdominal distention OMIM:620151
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Oligohydramnios, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Feeding difficulties, Thin skin ORPHA:261304
Alopecia Totalis
Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonychia, Nail pits, Fragile nails ORPHA:700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4
Premature graying of hair OMIM:616371
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis OMIM:176100
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Primary Effusion Lymphoma
Pericardial effusion, Abdominal pain, Pleural effusion, Abdominal distention ORPHA:48686
Glycogen Storage Disease Iv
Ascites, Hepatosplenomegaly, Esophageal varix, Polyhydramnios, Flexion contracture, Hydrops fetal... OMIM:232500
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Cronkhite-Canada Syndrome
Alopecia, Diarrhea, Dystrophic toenail, Sparse body hair, Lymphedema, Abnormal fingernail morphol... ORPHA:2930
Hemochromatosis, Type 1
Alopecia, Ascites, Pleural effusion, Splenomegaly, Hyperpigmentation of the skin, Hepatomegaly OMIM:235200
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... ORPHA:2885
Malignant Peritoneal Mesothelioma
Ascites, Ileus, Pedal edema ORPHA:168811
Eem Syndrome
Absent eyebrow, Abnormality of retinal pigmentation, Sparse scalp hair, Sparse body hair ORPHA:1897
Perching Syndrome
Dysphagia, Cyanosis, Feeding difficulties OMIM:617055
Congenital Sucrase-Isomaltase Deficiency
Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis... ORPHA:35122
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... ORPHA:79433
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Sparse hair, Premature skin wrinkling ORPHA:631
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Depression, Leukocytosis, Thrombocytopenia ORPHA:83601
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Ectodermal dysplasia OMIM:613576
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Neonatal death, Nonimmune hydrops fetalis, Death in adolescence, Polyh... OMIM:620014
Oligodontia-Colorectal Cancer Syndrome
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair OMIM:608615
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal... ORPHA:1807
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:181
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Long eyelashes, Thick eyebrow, Upper eyelid edema, Hirsutism, Low anterior hairline, Sparse hair OMIM:616819
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Bazex-Dupre-Christol Syndrome
Coarse hair, Trichorrhexis nodosa, Hyperpigmentation of the skin, Pili torti, Sparse hair, Tricho... OMIM:301845
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea ORPHA:103907
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Yellow nails, Slow-growing nails, Lymphedema OMIM:153300
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:177735
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Polyhydramnios, Neonatal death OMIM:619602
Congenital Disorder Of Glycosylation, Type Ih
Diarrhea, Vomiting, Decreased liver function, Ascites, Oligohydramnios, Death in infancy, Neonata... OMIM:608104
Noonan Syndrome 6
Webbed neck, Feeding difficulties, Low posterior hairline, Curly hair, Polyhydramnios, Long eyebr... OMIM:613224
Trichothiodystrophy 5, Nonphotosensitive
Sparse eyebrow, Progeroid facial appearance, Reduced hair sulfur content, Tiger tail banding, Cut... OMIM:300953
Portal Hypertension, Noncirrhotic, 2
Ascites, Splenomegaly, Hepatomegaly, Esophageal varix, Hepatocellular carcinoma OMIM:619463
Trichohepatoenteric Syndrome 2
Sparse hair, Diarrhea, Trichorrhexis nodosa, Chronic diarrhea, Uncombable hair, Brittle hair, Col... OMIM:614602
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Hepatomegaly OMIM:301045
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Thrombocytopenia, Anemia, Abn... ORPHA:848
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Pediatric Systemic Lupus Erythematosus
Alopecia, Diarrhea, Vomiting, Ascites, Pleural effusion, Abdominal distention, Pericardial effusi... ORPHA:93552
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556037
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip... OMIM:613662
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Ascites, Abnormality of the gastrointestinal tract, Ste... ORPHA:2070
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Posttransplant Acute Limbic Encephalitis
Hyponatremia, Depression ORPHA:163921
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:603553
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Esophageal varix, Steatorrhea ORPHA:75233
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Sparse facial hair ORPHA:2183
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
Gand Syndrome
Sparse hair OMIM:615074
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Lymphatic Malformation 6
Facial edema, Generalized edema, Cellulitis, Gastroesophageal reflux, Chylothorax, Lymphedema, As... OMIM:616843
Herpes Simplex Virus Encephalitis
Leukocytosis, Hyponatremia, Addictive alcohol use, Neutrophilia, Elevated circulating C-reactive ... ORPHA:1930
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Alopecia-Intellectual Disability Syndrome
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair ORPHA:2850
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development
Alopecia OMIM:242510
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea, Hypertonic dehyd... OMIM:606824
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Lymphedema, Ascites, Hypertrichosis, Death in infancy, Abdominal distention, Pol... OMIM:235255
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:556030
Obesity And Hypopigmentation
Red hair OMIM:620195
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Genital edema, Nail dystrophy, Chronic diarrhea, Feeding dif... ORPHA:98813
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Combined Oxidative Phosphorylation Deficiency 10
Ascites, Pericardial effusion, Oligohydramnios, Pleural effusion OMIM:614702
Hypoadrenocorticism, Familial
Hyponatremia, Hyperkalemia OMIM:240200
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Hidrotic ectodermal dysplasia, Sparse hair, Brittle hair, Coarse hair ORPHA:1883
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Atrichia, Nail dystrophy, Acrocyanosis, Congenital abnormal hair pattern ORPHA:1867
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Lelis Syndrome
Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor... ORPHA:140936
Progeroid Syndrome, Petty Type
Abnormal hair morphology, Prematurely aged appearance, Thick eyebrow, Long eyelashes in irregular... ORPHA:2963
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Nail dystrophy, Nail dysplasia OMIM:212360
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Feeding difficulties, Death in infancy OMIM:610992
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn... ORPHA:3437
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Death in infancy, Edema OMIM:611719
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Vomiting, Dehydration, Abnormal peristalsis, Abdominal distent... OMIM:615237
Complex Regional Pain Syndrome
Erythema, Abnormality of hair growth, Slow-growing nails, Edema of the upper limbs, Pedal edema ORPHA:83452
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Congenital Disorder Of Glycosylation, Type Il
Ascites, Villous atrophy, Splenomegaly, Lipodystrophy, Hepatomegaly, Hydrops fetalis, Pericardial... OMIM:608776
Localized Junctional Epidermolysis Bullosa
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... ORPHA:251393
Piebald Trait
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... OMIM:172800
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Xerostomia, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Sparse... OMIM:614941
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Excessive wrinkled skin, Abnorm... ORPHA:3051
Mitchell-Riley Syndrome
Meckel diverticulum, Anteriorly placed anus, Ascites, Intestinal malrotation, Jejunal atresia, Ac... OMIM:615710
Flynn-Aird Syndrome
Alopecia, Alopecia of scalp OMIM:136300
Free Sialic Acid Storage Disease
Hepatomegaly, Hydrops fetalis, Splenomegaly, Ascites ORPHA:834
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Congenital Toxoplasmosis
Hepatomegaly, Ascites ORPHA:858
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intesti... OMIM:226300
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Alopecia, Nail dystrophy ORPHA:79397
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair OMIM:119580
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Diarrhea, Edema, Abdominal distention, Dehydration ORPHA:103910
Ichthyosis, Congenital, Autosomal Recessive 1
Nail dysplasia, Alopecia, Sparse hair, Nail dystrophy OMIM:242300
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Splenomegaly, Intestinal obst... ORPHA:131
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... ORPHA:897
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Even-Plus Syndrome
Highly arched eyebrow, Oligohydramnios, Sparse hair, Synophrys OMIM:616854
Idiopathic Trachyonychia
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu... ORPHA:79153
Trichothiodystrophy 4, Nonphotosensitive
Sparse hair, Small nail, Trichorrhexis nodosa, Nail dystrophy, Concave nail, Sparse eyelashes, Na... OMIM:234050
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Death in infancy, Nonimmune hydrops fetalis OMIM:617049
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Trichothiodystrophy 8, Nonphotosensitive
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair OMIM:619691
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Abdominal distention, Nail dystrophy, Scarring alopecia of scalp, Fragile skin, Skin fr... ORPHA:158684
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Anorexia, Decreased proportion of naive T cel... OMIM:619381
Neuraminidase Deficiency
Facial edema, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:256550
Snakebite Envenomation
Hyponatremia, Neuromuscular dysphagia, Thrombocytopenia, Pseudobulbar paralysis ORPHA:449285
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Cutaneous photosensitivity, Death in childhood OMIM:610756
Trichothiodystrophy 1, Photosensitive
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Malabsorption, Nail dystrophy, D... OMIM:601675
Classic Mycosis Fungoides
Alopecia, Abnormality of the nail, Edema ORPHA:2584
Necrotizing Enterocolitis
Diarrhea, Vomiting, Hypoactive bowel sounds, Ascites, Cyanosis, Abdominal rigidity, Abdominal dis... ORPHA:391673
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Fine hair, Ascites, Nail dysplasia, Hydrops fetalis, Aplasia/Hypoplasia of the eyebrow, Sparse hair OMIM:614091
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation OMIM:616353
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyebrow, Death in early adulthood, Nail dystrophy, Sparse eyelashes, Death in ad... OMIM:605676
Hyperkalemic Periodic Paralysis
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration ORPHA:682
Olmsted Syndrome 2
Alopecia universalis, Sparse hair, Woolly hair OMIM:619208
Congenital Heart Block
Oligohydramnios, Pleural effusion, Peripheral edema, Cyanosis, Feeding difficulties in infancy, P... ORPHA:60041
Athyreosis
Constipation, Feeding difficulties, Abdominal distention ORPHA:95713
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Hyperkalemia OMIM:264350
Filippi Syndrome
Frontal hirsutism, Sparse hair, Hypertrichosis OMIM:272440
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Neonatal death OMIM:273680
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Sparse hair OMIM:619989
Klippel-Trénaunay Syndrome
Cellulitis, Gastrointestinal hemorrhage, Ascites, Hepatomegaly, Hydrops fetalis, Edema ORPHA:90308
Familial Atrial Myxoma
Ascites, Pedal edema ORPHA:615
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Alopecia of scalp, Nail dystrophy, Absent eyebrow, Abdominal distention,... ORPHA:436252
Cardiofaciocutaneous Syndrome 4
Multiple lentigines, Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Polyhydramn... OMIM:615280
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Abdominal distention ORPHA:93299
Sialuria
Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Protuberant abdome... OMIM:269921
Androgen Insensitivity Syndrome
Sparse axillary hair, Sparse pubic hair, Absent facial hair OMIM:300068
White Sponge Nevus 2
Edema OMIM:615785
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Sparse hair, Ectodermal dysplasia, Small nail OMIM:273400
Donohue Syndrome
Nail dysplasia, Abdominal distention, Hypertrichosis OMIM:246200
Anauxetic Dysplasia 2
Nail dysplasia, Sparse hair, Small nail OMIM:617396
Hereditary Mucoepithelial Dysplasia
Alopecia, Sparse hair, Fine hair ORPHA:1839
Albinism-Deafness Syndrome
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism OMIM:300700
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention OMIM:619445
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Hyperkalemia, Increased circulating renin level ORPHA:171876
Trichotillomania
Alopecia OMIM:613229
Ifap Syndrome 2
Atrichia, Sparse hair, Nail dystrophy OMIM:619016
2Q32Q33 Microdeletion Syndrome
Feeding difficulties, Sparse hair, Fine hair ORPHA:251019
Rodrigues Blindness
Sparse hair, Ectodermal dysplasia, Fine hair OMIM:268320
Erythrokeratodermia Variabilis
Abnormal hair morphology, Alopecia, Abnormality of the nail, Generalized hirsutism